SNP Links for Protein (Select 46370073) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 571

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Select item 14909126081.

rs1490912608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143438130 (GRCh38)
4:144359283 (GRCh37)
Canonical SPDI:: NC_000004.12:143438129:A:G
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143438130A>G, NC_000004.11:g.144359283A>G, NG_083493.1:g.550A>G, XM_006714168.5:c.497A>G, XM_006714168.4:c.497A>G, XM_006714168.3:c.497A>G, XM_006714168.2:c.497A>G, XM_006714168.1:c.497A>G, XM_006714167.5:c.497A>G, XM_006714167.4:c.497A>G, XM_006714167.3:c.497A>G, XM_006714167.2:c.497A>G, XM_006714167.1:c.497A>G, NM_002039.4:c.725A>G, NM_002039.3:c.725A>G, NM_207123.3:c.725A>G, NM_207123.2:c.725A>G, XM_017007966.2:c.767A>G, XM_017007966.1:c.767A>G, XM_017007968.2:c.686A>G, XM_017007968.1:c.686A>G, XM_017007970.2:c.497A>G, XM_017007970.1:c.497A>G, XM_017007967.2:c.755A>G, XM_017007967.1:c.755A>G, XM_017007969.2:c.497A>G, XM_017007969.1:c.497A>G, XM_047449972.1:c.416A>G, XM_047449973.1:c.497A>G, XM_047449974.1:c.416A>G, XM_047449971.1:c.497A>G, XM_047449968.1:c.767A>G, XM_047449969.1:c.767A>G, XM_047449970.1:c.674A>G, XP_006714231.1:p.Tyr166Cys, XP_006714230.1:p.Tyr166Cys, NP_002030.2:p.Tyr242Cys, NP_997006.1:p.Tyr242Cys, XP_016863455.1:p.Tyr256Cys, XP_016863457.1:p.Tyr229Cys, XP_016863459.1:p.Tyr166Cys, XP_016863456.1:p.Tyr252Cys, XP_016863458.1:p.Tyr166Cys, XP_047305928.1:p.Tyr139Cys, XP_047305929.1:p.Tyr166Cys, XP_047305930.1:p.Tyr139Cys, XP_047305927.1:p.Tyr166Cys, XP_047305924.1:p.Tyr256Cys, XP_047305925.1:p.Tyr256Cys, XP_047305926.1:p.Tyr225Cys

Select item 14900935592.

rs1490093559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:143438473 (GRCh38)
4:144359626 (GRCh37)
Canonical SPDI:: NC_000004.12:143438472:T:C,NC_000004.12:143438472:T:G
Gene:: GAB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143438473T>C, NC_000004.12:g.143438473T>G, NC_000004.11:g.144359626T>C, NC_000004.11:g.144359626T>G, NG_083493.1:g.893T>C, NG_083493.1:g.893T>G, XM_006714168.5:c.840T>C, XM_006714168.5:c.840T>G, XM_006714168.4:c.840T>C, XM_006714168.4:c.840T>G, XM_006714168.3:c.840T>C, XM_006714168.3:c.840T>G, XM_006714168.2:c.840T>C, XM_006714168.2:c.840T>G, XM_006714168.1:c.840T>C, XM_006714168.1:c.840T>G, XM_006714167.5:c.840T>C, XM_006714167.5:c.840T>G, XM_006714167.4:c.840T>C, XM_006714167.4:c.840T>G, XM_006714167.3:c.840T>C, XM_006714167.3:c.840T>G, XM_006714167.2:c.840T>C, XM_006714167.2:c.840T>G, XM_006714167.1:c.840T>C, XM_006714167.1:c.840T>G, NM_002039.4:c.1068T>C, NM_002039.4:c.1068T>G, NM_002039.3:c.1068T>C, NM_002039.3:c.1068T>G, NM_207123.3:c.1068T>C, NM_207123.3:c.1068T>G, NM_207123.2:c.1068T>C, NM_207123.2:c.1068T>G, XM_017007966.2:c.1110T>C, XM_017007966.2:c.1110T>G, XM_017007966.1:c.1110T>C, XM_017007966.1:c.1110T>G, XM_017007968.2:c.1029T>C, XM_017007968.2:c.1029T>G, XM_017007968.1:c.1029T>C, XM_017007968.1:c.1029T>G, XM_017007970.2:c.840T>C, XM_017007970.2:c.840T>G, XM_017007970.1:c.840T>C, XM_017007970.1:c.840T>G, XM_017007967.2:c.1098T>C, XM_017007967.2:c.1098T>G, XM_017007967.1:c.1098T>C, XM_017007967.1:c.1098T>G, XM_017007969.2:c.840T>C, XM_017007969.2:c.840T>G, XM_017007969.1:c.840T>C, XM_017007969.1:c.840T>G, XM_047449972.1:c.759T>C, XM_047449972.1:c.759T>G, XM_047449973.1:c.840T>C, XM_047449973.1:c.840T>G, XM_047449974.1:c.759T>C, XM_047449974.1:c.759T>G, XM_047449971.1:c.840T>C, XM_047449971.1:c.840T>G, XM_047449968.1:c.1110T>C, XM_047449968.1:c.1110T>G, XM_047449969.1:c.1110T>C, XM_047449969.1:c.1110T>G, XM_047449970.1:c.1017T>C, XM_047449970.1:c.1017T>G

Select item 14900281333.

rs1490028133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:143433545 (GRCh38)
4:144354698 (GRCh37)
Canonical SPDI:: NC_000004.12:143433544:C:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143433545C>T, NC_000004.11:g.144354698C>T, XM_006714168.5:c.113C>T, XM_006714168.4:c.113C>T, XM_006714168.3:c.113C>T, XM_006714168.2:c.113C>T, XM_006714168.1:c.113C>T, XM_006714167.5:c.113C>T, XM_006714167.4:c.113C>T, XM_006714167.3:c.113C>T, XM_006714167.2:c.113C>T, XM_006714167.1:c.113C>T, NM_002039.4:c.422C>T, NM_002039.3:c.422C>T, NM_207123.3:c.422C>T, NM_207123.2:c.422C>T, XM_017007966.2:c.383C>T, XM_017007966.1:c.383C>T, XM_017007968.2:c.383C>T, XM_017007968.1:c.383C>T, XM_017007970.2:c.113C>T, XM_017007970.1:c.113C>T, XM_017007967.2:c.371C>T, XM_017007967.1:c.371C>T, XM_017007969.2:c.113C>T, XM_017007969.1:c.113C>T, XM_047449972.1:c.113C>T, XM_047449973.1:c.113C>T, XM_047449974.1:c.113C>T, XM_047449971.1:c.113C>T, XM_047449968.1:c.383C>T, XM_047449969.1:c.383C>T, XM_047449970.1:c.371C>T, XP_006714231.1:p.Ala38Val, XP_006714230.1:p.Ala38Val, NP_002030.2:p.Ala141Val, NP_997006.1:p.Ala141Val, XP_016863455.1:p.Ala128Val, XP_016863457.1:p.Ala128Val, XP_016863459.1:p.Ala38Val, XP_016863456.1:p.Ala124Val, XP_016863458.1:p.Ala38Val, XP_047305928.1:p.Ala38Val, XP_047305929.1:p.Ala38Val, XP_047305930.1:p.Ala38Val, XP_047305927.1:p.Ala38Val, XP_047305924.1:p.Ala128Val, XP_047305925.1:p.Ala128Val, XP_047305926.1:p.Ala124Val

Select item 14893308764.

rs1489330876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143459428 (GRCh38)
4:144380581 (GRCh37)
Canonical SPDI:: NC_000004.12:143459427:A:G
Gene:: GAB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143459428A>G, NC_000004.11:g.144380581A>G, XM_006714168.5:c.1491A>G, XM_006714168.4:c.1491A>G, XM_006714168.3:c.1491A>G, XM_006714168.2:c.1491A>G, XM_006714168.1:c.1491A>G, XM_006714167.5:c.1491A>G, XM_006714167.4:c.1491A>G, XM_006714167.3:c.1491A>G, XM_006714167.2:c.1491A>G, XM_006714167.1:c.1491A>G, NM_002039.4:c.1629A>G, NM_002039.3:c.1629A>G, NM_207123.3:c.1719A>G, NM_207123.2:c.1719A>G, XM_017007966.2:c.1761A>G, XM_017007966.1:c.1761A>G, XM_017007968.2:c.1680A>G, XM_017007968.1:c.1680A>G, XM_017007970.2:c.1491A>G, XM_017007970.1:c.1491A>G, XM_017007967.2:c.1749A>G, XM_017007967.1:c.1749A>G, XM_017007969.2:c.1491A>G, XM_017007969.1:c.1491A>G, XM_047449972.1:c.1410A>G, XM_047449973.1:c.1401A>G, XM_047449974.1:c.1320A>G, XM_047449971.1:c.1491A>G, XM_047449968.1:c.1761A>G, XM_047449969.1:c.1761A>G, XM_047449970.1:c.1578A>G

Select item 14850336415.

rs1485033641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:143438349 (GRCh38)
4:144359502 (GRCh37)
Canonical SPDI:: NC_000004.12:143438348:A:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.143438349A>T, NC_000004.11:g.144359502A>T, NG_083493.1:g.769A>T, XM_006714168.5:c.716A>T, XM_006714168.4:c.716A>T, XM_006714168.3:c.716A>T, XM_006714168.2:c.716A>T, XM_006714168.1:c.716A>T, XM_006714167.5:c.716A>T, XM_006714167.4:c.716A>T, XM_006714167.3:c.716A>T, XM_006714167.2:c.716A>T, XM_006714167.1:c.716A>T, NM_002039.4:c.944A>T, NM_002039.3:c.944A>T, NM_207123.3:c.944A>T, NM_207123.2:c.944A>T, XM_017007966.2:c.986A>T, XM_017007966.1:c.986A>T, XM_017007968.2:c.905A>T, XM_017007968.1:c.905A>T, XM_017007970.2:c.716A>T, XM_017007970.1:c.716A>T, XM_017007967.2:c.974A>T, XM_017007967.1:c.974A>T, XM_017007969.2:c.716A>T, XM_017007969.1:c.716A>T, XM_047449972.1:c.635A>T, XM_047449973.1:c.716A>T, XM_047449974.1:c.635A>T, XM_047449971.1:c.716A>T, XM_047449968.1:c.986A>T, XM_047449969.1:c.986A>T, XM_047449970.1:c.893A>T, XP_006714231.1:p.Asn239Ile, XP_006714230.1:p.Asn239Ile, NP_002030.2:p.Asn315Ile, NP_997006.1:p.Asn315Ile, XP_016863455.1:p.Asn329Ile, XP_016863457.1:p.Asn302Ile, XP_016863459.1:p.Asn239Ile, XP_016863456.1:p.Asn325Ile, XP_016863458.1:p.Asn239Ile, XP_047305928.1:p.Asn212Ile, XP_047305929.1:p.Asn239Ile, XP_047305930.1:p.Asn212Ile, XP_047305927.1:p.Asn239Ile, XP_047305924.1:p.Asn329Ile, XP_047305925.1:p.Asn329Ile, XP_047305926.1:p.Asn298Ile

Select item 14817520186.

rs1481752018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:143438389 (GRCh38)
4:144359542 (GRCh37)
Canonical SPDI:: NC_000004.12:143438388:G:C
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143438389G>C, NC_000004.11:g.144359542G>C, NG_083493.1:g.809G>C, XM_006714168.5:c.756G>C, XM_006714168.4:c.756G>C, XM_006714168.3:c.756G>C, XM_006714168.2:c.756G>C, XM_006714168.1:c.756G>C, XM_006714167.5:c.756G>C, XM_006714167.4:c.756G>C, XM_006714167.3:c.756G>C, XM_006714167.2:c.756G>C, XM_006714167.1:c.756G>C, NM_002039.4:c.984G>C, NM_002039.3:c.984G>C, NM_207123.3:c.984G>C, NM_207123.2:c.984G>C, XM_017007966.2:c.1026G>C, XM_017007966.1:c.1026G>C, XM_017007968.2:c.945G>C, XM_017007968.1:c.945G>C, XM_017007970.2:c.756G>C, XM_017007970.1:c.756G>C, XM_017007967.2:c.1014G>C, XM_017007967.1:c.1014G>C, XM_017007969.2:c.756G>C, XM_017007969.1:c.756G>C, XM_047449972.1:c.675G>C, XM_047449973.1:c.756G>C, XM_047449974.1:c.675G>C, XM_047449971.1:c.756G>C, XM_047449968.1:c.1026G>C, XM_047449969.1:c.1026G>C, XM_047449970.1:c.933G>C, XP_006714231.1:p.Leu252Phe, XP_006714230.1:p.Leu252Phe, NP_002030.2:p.Leu328Phe, NP_997006.1:p.Leu328Phe, XP_016863455.1:p.Leu342Phe, XP_016863457.1:p.Leu315Phe, XP_016863459.1:p.Leu252Phe, XP_016863456.1:p.Leu338Phe, XP_016863458.1:p.Leu252Phe, XP_047305928.1:p.Leu225Phe, XP_047305929.1:p.Leu252Phe, XP_047305930.1:p.Leu225Phe, XP_047305927.1:p.Leu252Phe, XP_047305924.1:p.Leu342Phe, XP_047305925.1:p.Leu342Phe, XP_047305926.1:p.Leu311Phe

Select item 14783304987.

rs1478330498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143438414 (GRCh38)
4:144359567 (GRCh37)
Canonical SPDI:: NC_000004.12:143438413:A:G
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.143438414A>G, NC_000004.11:g.144359567A>G, NG_083493.1:g.834A>G, XM_006714168.5:c.781A>G, XM_006714168.4:c.781A>G, XM_006714168.3:c.781A>G, XM_006714168.2:c.781A>G, XM_006714168.1:c.781A>G, XM_006714167.5:c.781A>G, XM_006714167.4:c.781A>G, XM_006714167.3:c.781A>G, XM_006714167.2:c.781A>G, XM_006714167.1:c.781A>G, NM_002039.4:c.1009A>G, NM_002039.3:c.1009A>G, NM_207123.3:c.1009A>G, NM_207123.2:c.1009A>G, XM_017007966.2:c.1051A>G, XM_017007966.1:c.1051A>G, XM_017007968.2:c.970A>G, XM_017007968.1:c.970A>G, XM_017007970.2:c.781A>G, XM_017007970.1:c.781A>G, XM_017007967.2:c.1039A>G, XM_017007967.1:c.1039A>G, XM_017007969.2:c.781A>G, XM_017007969.1:c.781A>G, XM_047449972.1:c.700A>G, XM_047449973.1:c.781A>G, XM_047449974.1:c.700A>G, XM_047449971.1:c.781A>G, XM_047449968.1:c.1051A>G, XM_047449969.1:c.1051A>G, XM_047449970.1:c.958A>G, XP_006714231.1:p.Ile261Val, XP_006714230.1:p.Ile261Val, NP_002030.2:p.Ile337Val, NP_997006.1:p.Ile337Val, XP_016863455.1:p.Ile351Val, XP_016863457.1:p.Ile324Val, XP_016863459.1:p.Ile261Val, XP_016863456.1:p.Ile347Val, XP_016863458.1:p.Ile261Val, XP_047305928.1:p.Ile234Val, XP_047305929.1:p.Ile261Val, XP_047305930.1:p.Ile234Val, XP_047305927.1:p.Ile261Val, XP_047305924.1:p.Ile351Val, XP_047305925.1:p.Ile351Val, XP_047305926.1:p.Ile320Val

Select item 14764885958.

rs1476488595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:143469161 (GRCh38)
4:144390314 (GRCh37)
Canonical SPDI:: NC_000004.12:143469160:C:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143469161C>T, NC_000004.11:g.144390314C>T, XM_006714168.5:c.1919C>T, XM_006714168.4:c.1919C>T, XM_006714168.3:c.1919C>T, XM_006714168.2:c.1919C>T, XM_006714168.1:c.1919C>T, XM_006714167.5:c.1919C>T, XM_006714167.4:c.1919C>T, XM_006714167.3:c.1919C>T, XM_006714167.2:c.1919C>T, XM_006714167.1:c.1919C>T, NM_002039.4:c.2057C>T, NM_002039.3:c.2057C>T, NM_207123.3:c.2147C>T, NM_207123.2:c.2147C>T, XM_017007966.2:c.2189C>T, XM_017007966.1:c.2189C>T, XM_017007968.2:c.2108C>T, XM_017007968.1:c.2108C>T, XM_017007970.2:c.1919C>T, XM_017007970.1:c.1919C>T, XM_017007967.2:c.2177C>T, XM_017007967.1:c.2177C>T, XM_017007969.2:c.1919C>T, XM_017007969.1:c.1919C>T, XM_047449972.1:c.1838C>T, XM_047449973.1:c.1829C>T, XM_047449974.1:c.1748C>T, XM_047449971.1:c.1919C>T, XM_047449968.1:c.2189C>T, XM_047449969.1:c.2189C>T, XM_047449970.1:c.2006C>T, XP_006714231.1:p.Ser640Leu, XP_006714230.1:p.Ser640Leu, NP_002030.2:p.Ser686Leu, NP_997006.1:p.Ser716Leu, XP_016863455.1:p.Ser730Leu, XP_016863457.1:p.Ser703Leu, XP_016863459.1:p.Ser640Leu, XP_016863456.1:p.Ser726Leu, XP_016863458.1:p.Ser640Leu, XP_047305928.1:p.Ser613Leu, XP_047305929.1:p.Ser610Leu, XP_047305930.1:p.Ser583Leu, XP_047305927.1:p.Ser640Leu, XP_047305924.1:p.Ser730Leu, XP_047305925.1:p.Ser730Leu, XP_047305926.1:p.Ser669Leu

Select item 14735857409.

rs1473585740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:143440344 (GRCh38)
4:144361497 (GRCh37)
Canonical SPDI:: NC_000004.12:143440343:C:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143440344C>T, NC_000004.11:g.144361497C>T, XM_006714168.5:c.1319C>T, XM_006714168.4:c.1319C>T, XM_006714168.3:c.1319C>T, XM_006714168.2:c.1319C>T, XM_006714168.1:c.1319C>T, XM_006714167.5:c.1319C>T, XM_006714167.4:c.1319C>T, XM_006714167.3:c.1319C>T, XM_006714167.2:c.1319C>T, XM_006714167.1:c.1319C>T, NM_002039.4:c.1547C>T, NM_002039.3:c.1547C>T, NM_207123.3:c.1547C>T, NM_207123.2:c.1547C>T, XM_017007966.2:c.1589C>T, XM_017007966.1:c.1589C>T, XM_017007968.2:c.1508C>T, XM_017007968.1:c.1508C>T, XM_017007970.2:c.1319C>T, XM_017007970.1:c.1319C>T, XM_017007967.2:c.1577C>T, XM_017007967.1:c.1577C>T, XM_017007969.2:c.1319C>T, XM_017007969.1:c.1319C>T, XM_047449972.1:c.1238C>T, XM_047449973.1:c.1319C>T, XM_047449974.1:c.1238C>T, XM_047449971.1:c.1319C>T, XM_047449968.1:c.1589C>T, XM_047449969.1:c.1589C>T, XM_047449970.1:c.1496C>T, XP_006714231.1:p.Pro440Leu, XP_006714230.1:p.Pro440Leu, NP_002030.2:p.Pro516Leu, NP_997006.1:p.Pro516Leu, XP_016863455.1:p.Pro530Leu, XP_016863457.1:p.Pro503Leu, XP_016863459.1:p.Pro440Leu, XP_016863456.1:p.Pro526Leu, XP_016863458.1:p.Pro440Leu, XP_047305928.1:p.Pro413Leu, XP_047305929.1:p.Pro440Leu, XP_047305930.1:p.Pro413Leu, XP_047305927.1:p.Pro440Leu, XP_047305924.1:p.Pro530Leu, XP_047305925.1:p.Pro530Leu, XP_047305926.1:p.Pro499Leu

Select item 147316303910.

rs1473163039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:143439819 (GRCh38)
4:144360972 (GRCh37)
Canonical SPDI:: NC_000004.12:143439818:T:A
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143439819T>A, NC_000004.11:g.144360972T>A, XM_006714168.5:c.985T>A, XM_006714168.4:c.985T>A, XM_006714168.3:c.985T>A, XM_006714168.2:c.985T>A, XM_006714168.1:c.985T>A, XM_006714167.5:c.985T>A, XM_006714167.4:c.985T>A, XM_006714167.3:c.985T>A, XM_006714167.2:c.985T>A, XM_006714167.1:c.985T>A, NM_002039.4:c.1213T>A, NM_002039.3:c.1213T>A, NM_207123.3:c.1213T>A, NM_207123.2:c.1213T>A, XM_017007966.2:c.1255T>A, XM_017007966.1:c.1255T>A, XM_017007968.2:c.1174T>A, XM_017007968.1:c.1174T>A, XM_017007970.2:c.985T>A, XM_017007970.1:c.985T>A, XM_017007967.2:c.1243T>A, XM_017007967.1:c.1243T>A, XM_017007969.2:c.985T>A, XM_017007969.1:c.985T>A, XM_047449972.1:c.904T>A, XM_047449973.1:c.985T>A, XM_047449974.1:c.904T>A, XM_047449971.1:c.985T>A, XM_047449968.1:c.1255T>A, XM_047449969.1:c.1255T>A, XM_047449970.1:c.1162T>A, XP_006714231.1:p.Cys329Ser, XP_006714230.1:p.Cys329Ser, NP_002030.2:p.Cys405Ser, NP_997006.1:p.Cys405Ser, XP_016863455.1:p.Cys419Ser, XP_016863457.1:p.Cys392Ser, XP_016863459.1:p.Cys329Ser, XP_016863456.1:p.Cys415Ser, XP_016863458.1:p.Cys329Ser, XP_047305928.1:p.Cys302Ser, XP_047305929.1:p.Cys329Ser, XP_047305930.1:p.Cys302Ser, XP_047305927.1:p.Cys329Ser, XP_047305924.1:p.Cys419Ser, XP_047305925.1:p.Cys419Ser, XP_047305926.1:p.Cys388Ser

Select item 147283201611.

rs1472832016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:143415771 (GRCh38)
4:144336924 (GRCh37)
Canonical SPDI:: NC_000004.12:143415770:G:A,NC_000004.12:143415770:G:C
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143415771G>A, NC_000004.12:g.143415771G>C, NC_000004.11:g.144336924G>A, NC_000004.11:g.144336924G>C, XM_006714168.5:c.58G>A, XM_006714168.5:c.58G>C, XM_006714168.4:c.58G>A, XM_006714168.4:c.58G>C, XM_006714168.3:c.58G>A, XM_006714168.3:c.58G>C, XM_006714168.2:c.58G>A, XM_006714168.2:c.58G>C, XM_006714168.1:c.58G>A, XM_006714168.1:c.58G>C, XM_006714167.5:c.58G>A, XM_006714167.5:c.58G>C, XM_006714167.4:c.58G>A, XM_006714167.4:c.58G>C, XM_006714167.3:c.58G>A, XM_006714167.3:c.58G>C, XM_006714167.2:c.58G>A, XM_006714167.2:c.58G>C, XM_006714167.1:c.58G>A, XM_006714167.1:c.58G>C, NM_002039.4:c.367G>A, NM_002039.4:c.367G>C, NM_002039.3:c.367G>A, NM_002039.3:c.367G>C, NM_207123.3:c.367G>A, NM_207123.3:c.367G>C, NM_207123.2:c.367G>A, NM_207123.2:c.367G>C, XM_017007966.2:c.328G>A, XM_017007966.2:c.328G>C, XM_017007966.1:c.328G>A, XM_017007966.1:c.328G>C, XM_017007968.2:c.328G>A, XM_017007968.2:c.328G>C, XM_017007968.1:c.328G>A, XM_017007968.1:c.328G>C, XM_017007970.2:c.58G>A, XM_017007970.2:c.58G>C, XM_017007970.1:c.58G>A, XM_017007970.1:c.58G>C, XM_017007967.2:c.316G>A, XM_017007967.2:c.316G>C, XM_017007967.1:c.316G>A, XM_017007967.1:c.316G>C, XM_017007969.2:c.58G>A, XM_017007969.2:c.58G>C, XM_017007969.1:c.58G>A, XM_017007969.1:c.58G>C, XM_047449972.1:c.58G>A, XM_047449972.1:c.58G>C, XM_047449973.1:c.58G>A, XM_047449973.1:c.58G>C, XM_047449974.1:c.58G>A, XM_047449974.1:c.58G>C, XM_047449971.1:c.58G>A, XM_047449971.1:c.58G>C, XM_047449968.1:c.328G>A, XM_047449968.1:c.328G>C, XM_047449969.1:c.328G>A, XM_047449969.1:c.328G>C, XM_047449970.1:c.316G>A, XM_047449970.1:c.316G>C, XP_006714231.1:p.Asp20Asn, XP_006714231.1:p.Asp20His, XP_006714230.1:p.Asp20Asn, XP_006714230.1:p.Asp20His, NP_002030.2:p.Asp123Asn, NP_002030.2:p.Asp123His, NP_997006.1:p.Asp123Asn, NP_997006.1:p.Asp123His, XP_016863455.1:p.Asp110Asn, XP_016863455.1:p.Asp110His, XP_016863457.1:p.Asp110Asn, XP_016863457.1:p.Asp110His, XP_016863459.1:p.Asp20Asn, XP_016863459.1:p.Asp20His, XP_016863456.1:p.Asp106Asn, XP_016863456.1:p.Asp106His, XP_016863458.1:p.Asp20Asn, XP_016863458.1:p.Asp20His, XP_047305928.1:p.Asp20Asn, XP_047305928.1:p.Asp20His, XP_047305929.1:p.Asp20Asn, XP_047305929.1:p.Asp20His, XP_047305930.1:p.Asp20Asn, XP_047305930.1:p.Asp20His, XP_047305927.1:p.Asp20Asn, XP_047305927.1:p.Asp20His, XP_047305924.1:p.Asp110Asn, XP_047305924.1:p.Asp110His, XP_047305925.1:p.Asp110Asn, XP_047305925.1:p.Asp110His, XP_047305926.1:p.Asp106Asn, XP_047305926.1:p.Asp106His

Select item 147203766012.

rs1472037660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:143440116 (GRCh38)
4:144361269 (GRCh37)
Canonical SPDI:: NC_000004.12:143440115:G:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143440116G>T, NC_000004.11:g.144361269G>T, XM_006714168.5:c.1091G>T, XM_006714168.4:c.1091G>T, XM_006714168.3:c.1091G>T, XM_006714168.2:c.1091G>T, XM_006714168.1:c.1091G>T, XM_006714167.5:c.1091G>T, XM_006714167.4:c.1091G>T, XM_006714167.3:c.1091G>T, XM_006714167.2:c.1091G>T, XM_006714167.1:c.1091G>T, NM_002039.4:c.1319G>T, NM_002039.3:c.1319G>T, NM_207123.3:c.1319G>T, NM_207123.2:c.1319G>T, XM_017007966.2:c.1361G>T, XM_017007966.1:c.1361G>T, XM_017007968.2:c.1280G>T, XM_017007968.1:c.1280G>T, XM_017007970.2:c.1091G>T, XM_017007970.1:c.1091G>T, XM_017007967.2:c.1349G>T, XM_017007967.1:c.1349G>T, XM_017007969.2:c.1091G>T, XM_017007969.1:c.1091G>T, XM_047449972.1:c.1010G>T, XM_047449973.1:c.1091G>T, XM_047449974.1:c.1010G>T, XM_047449971.1:c.1091G>T, XM_047449968.1:c.1361G>T, XM_047449969.1:c.1361G>T, XM_047449970.1:c.1268G>T, XP_006714231.1:p.Ser364Ile, XP_006714230.1:p.Ser364Ile, NP_002030.2:p.Ser440Ile, NP_997006.1:p.Ser440Ile, XP_016863455.1:p.Ser454Ile, XP_016863457.1:p.Ser427Ile, XP_016863459.1:p.Ser364Ile, XP_016863456.1:p.Ser450Ile, XP_016863458.1:p.Ser364Ile, XP_047305928.1:p.Ser337Ile, XP_047305929.1:p.Ser364Ile, XP_047305930.1:p.Ser337Ile, XP_047305927.1:p.Ser364Ile, XP_047305924.1:p.Ser454Ile, XP_047305925.1:p.Ser454Ile, XP_047305926.1:p.Ser423Ile

Select item 147169744713.

rs1471697447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143415659 (GRCh38)
4:144336812 (GRCh37)
Canonical SPDI:: NC_000004.12:143415658:T:C
Gene:: GAB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.143415659T>C, NC_000004.11:g.144336812T>C, XM_006714168.5:c.-55T>C, XM_006714168.4:c.-55T>C, XM_006714168.3:c.-55T>C, XM_006714168.2:c.-55T>C, XM_006714168.1:c.-55T>C, XM_006714167.5:c.-55T>C, XM_006714167.4:c.-55T>C, XM_006714167.3:c.-55T>C, XM_006714167.2:c.-55T>C, XM_006714167.1:c.-55T>C, NM_002039.4:c.255T>C, NM_002039.3:c.255T>C, NM_207123.3:c.255T>C, NM_207123.2:c.255T>C, XM_017007966.2:c.216T>C, XM_017007966.1:c.216T>C, XM_017007968.2:c.216T>C, XM_017007968.1:c.216T>C, XM_017007970.2:c.-55T>C, XM_017007970.1:c.-55T>C, XM_017007967.2:c.204T>C, XM_017007967.1:c.204T>C, XM_017007969.2:c.-55T>C, XM_017007969.1:c.-55T>C, XM_047449972.1:c.-55T>C, XM_047449973.1:c.-55T>C, XM_047449974.1:c.-55T>C, XM_047449971.1:c.-55T>C, XM_047449968.1:c.216T>C, XM_047449969.1:c.216T>C, XM_047449970.1:c.204T>C

Select item 147096202514.

rs1470962025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:143460435 (GRCh38)
4:144381588 (GRCh37)
Canonical SPDI:: NC_000004.12:143460434:A:T
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.143460435A>T, NC_000004.11:g.144381588A>T, XM_006714168.5:c.1613A>T, XM_006714168.4:c.1613A>T, XM_006714168.3:c.1613A>T, XM_006714168.2:c.1613A>T, XM_006714168.1:c.1613A>T, XM_006714167.5:c.1613A>T, XM_006714167.4:c.1613A>T, XM_006714167.3:c.1613A>T, XM_006714167.2:c.1613A>T, XM_006714167.1:c.1613A>T, NM_002039.4:c.1751A>T, NM_002039.3:c.1751A>T, NM_207123.3:c.1841A>T, NM_207123.2:c.1841A>T, XM_017007966.2:c.1883A>T, XM_017007966.1:c.1883A>T, XM_017007968.2:c.1802A>T, XM_017007968.1:c.1802A>T, XM_017007970.2:c.1613A>T, XM_017007970.1:c.1613A>T, XM_017007967.2:c.1871A>T, XM_017007967.1:c.1871A>T, XM_017007969.2:c.1613A>T, XM_017007969.1:c.1613A>T, XM_047449972.1:c.1532A>T, XM_047449973.1:c.1523A>T, XM_047449974.1:c.1442A>T, XM_047449971.1:c.1613A>T, XM_047449968.1:c.1883A>T, XM_047449969.1:c.1883A>T, XM_047449970.1:c.1700A>T, XP_006714231.1:p.Asp538Val, XP_006714230.1:p.Asp538Val, NP_002030.2:p.Asp584Val, NP_997006.1:p.Asp614Val, XP_016863455.1:p.Asp628Val, XP_016863457.1:p.Asp601Val, XP_016863459.1:p.Asp538Val, XP_016863456.1:p.Asp624Val, XP_016863458.1:p.Asp538Val, XP_047305928.1:p.Asp511Val, XP_047305929.1:p.Asp508Val, XP_047305930.1:p.Asp481Val, XP_047305927.1:p.Asp538Val, XP_047305924.1:p.Asp628Val, XP_047305925.1:p.Asp628Val, XP_047305926.1:p.Asp567Val

Select item 146916287815.

rs1469162878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143438328 (GRCh38)
4:144359481 (GRCh37)
Canonical SPDI:: NC_000004.12:143438327:A:G
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143438328A>G, NC_000004.11:g.144359481A>G, NG_083493.1:g.748A>G, XM_006714168.5:c.695A>G, XM_006714168.4:c.695A>G, XM_006714168.3:c.695A>G, XM_006714168.2:c.695A>G, XM_006714168.1:c.695A>G, XM_006714167.5:c.695A>G, XM_006714167.4:c.695A>G, XM_006714167.3:c.695A>G, XM_006714167.2:c.695A>G, XM_006714167.1:c.695A>G, NM_002039.4:c.923A>G, NM_002039.3:c.923A>G, NM_207123.3:c.923A>G, NM_207123.2:c.923A>G, XM_017007966.2:c.965A>G, XM_017007966.1:c.965A>G, XM_017007968.2:c.884A>G, XM_017007968.1:c.884A>G, XM_017007970.2:c.695A>G, XM_017007970.1:c.695A>G, XM_017007967.2:c.953A>G, XM_017007967.1:c.953A>G, XM_017007969.2:c.695A>G, XM_017007969.1:c.695A>G, XM_047449972.1:c.614A>G, XM_047449973.1:c.695A>G, XM_047449974.1:c.614A>G, XM_047449971.1:c.695A>G, XM_047449968.1:c.965A>G, XM_047449969.1:c.965A>G, XM_047449970.1:c.872A>G, XP_006714231.1:p.Asp232Gly, XP_006714230.1:p.Asp232Gly, NP_002030.2:p.Asp308Gly, NP_997006.1:p.Asp308Gly, XP_016863455.1:p.Asp322Gly, XP_016863457.1:p.Asp295Gly, XP_016863459.1:p.Asp232Gly, XP_016863456.1:p.Asp318Gly, XP_016863458.1:p.Asp232Gly, XP_047305928.1:p.Asp205Gly, XP_047305929.1:p.Asp232Gly, XP_047305930.1:p.Asp205Gly, XP_047305927.1:p.Asp232Gly, XP_047305924.1:p.Asp322Gly, XP_047305925.1:p.Asp322Gly, XP_047305926.1:p.Asp291Gly

Select item 146830820116.

rs1468308201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:143438322 (GRCh38)
4:144359475 (GRCh37)
Canonical SPDI:: NC_000004.12:143438321:G:C
Gene:: GAB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143438322G>C, NC_000004.11:g.144359475G>C, NG_083493.1:g.742G>C, XM_006714168.5:c.689G>C, XM_006714168.4:c.689G>C, XM_006714168.3:c.689G>C, XM_006714168.2:c.689G>C, XM_006714168.1:c.689G>C, XM_006714167.5:c.689G>C, XM_006714167.4:c.689G>C, XM_006714167.3:c.689G>C, XM_006714167.2:c.689G>C, XM_006714167.1:c.689G>C, NM_002039.4:c.917G>C, NM_002039.3:c.917G>C, NM_207123.3:c.917G>C, NM_207123.2:c.917G>C, XM_017007966.2:c.959G>C, XM_017007966.1:c.959G>C, XM_017007968.2:c.878G>C, XM_017007968.1:c.878G>C, XM_017007970.2:c.689G>C, XM_017007970.1:c.689G>C, XM_017007967.2:c.947G>C, XM_017007967.1:c.947G>C, XM_017007969.2:c.689G>C, XM_017007969.1:c.689G>C, XM_047449972.1:c.608G>C, XM_047449973.1:c.689G>C, XM_047449974.1:c.608G>C, XM_047449971.1:c.689G>C, XM_047449968.1:c.959G>C, XM_047449969.1:c.959G>C, XM_047449970.1:c.866G>C, XP_006714231.1:p.Ser230Thr, XP_006714230.1:p.Ser230Thr, NP_002030.2:p.Ser306Thr, NP_997006.1:p.Ser306Thr, XP_016863455.1:p.Ser320Thr, XP_016863457.1:p.Ser293Thr, XP_016863459.1:p.Ser230Thr, XP_016863456.1:p.Ser316Thr, XP_016863458.1:p.Ser230Thr, XP_047305928.1:p.Ser203Thr, XP_047305929.1:p.Ser230Thr, XP_047305930.1:p.Ser203Thr, XP_047305927.1:p.Ser230Thr, XP_047305924.1:p.Ser320Thr, XP_047305925.1:p.Ser320Thr, XP_047305926.1:p.Ser289Thr

Select item 146617966217.

rs1466179662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:143459431 (GRCh38)
4:144380585 (GRCh37)
Canonical SPDI:: NC_000004.12:143459431:TT:TTT
Gene:: GAB1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143459433dup, NC_000004.11:g.144380586dup, XM_006714168.5:c.1496dup, XM_006714168.4:c.1496dup, XM_006714168.3:c.1496dup, XM_006714168.2:c.1496dup, XM_006714168.1:c.1496dup, XM_006714167.5:c.1496dup, XM_006714167.4:c.1496dup, XM_006714167.3:c.1496dup, XM_006714167.2:c.1496dup, XM_006714167.1:c.1496dup, NM_002039.4:c.1634dup, NM_002039.3:c.1634dup, NM_207123.3:c.1724dup, NM_207123.2:c.1724dup, XM_017007966.2:c.1766dup, XM_017007966.1:c.1766dup, XM_017007968.2:c.1685dup, XM_017007968.1:c.1685dup, XM_017007970.2:c.1496dup, XM_017007970.1:c.1496dup, XM_017007967.2:c.1754dup, XM_017007967.1:c.1754dup, XM_017007969.2:c.1496dup, XM_017007969.1:c.1496dup, XM_047449972.1:c.1415dup, XM_047449973.1:c.1406dup, XM_047449974.1:c.1325dup, XM_047449971.1:c.1496dup, XM_047449968.1:c.1766dup, XM_047449969.1:c.1766dup, XM_047449970.1:c.1583dup, XP_006714231.1:p.Leu499fs, XP_006714230.1:p.Leu499fs, NP_002030.2:p.Leu545fs, NP_997006.1:p.Leu575fs, XP_016863455.1:p.Leu589fs, XP_016863457.1:p.Leu562fs, XP_016863459.1:p.Leu499fs, XP_016863456.1:p.Leu585fs, XP_016863458.1:p.Leu499fs, XP_047305928.1:p.Leu472fs, XP_047305929.1:p.Leu469fs, XP_047305930.1:p.Leu442fs, XP_047305927.1:p.Leu499fs, XP_047305924.1:p.Leu589fs, XP_047305925.1:p.Leu589fs, XP_047305926.1:p.Leu528fs

Select item 146586307918.

rs1465863079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:143438596 (GRCh38)
4:144359749 (GRCh37)
Canonical SPDI:: NC_000004.12:143438595:A:C,NC_000004.12:143438595:A:G
Gene:: GAB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.143438596A>C, NC_000004.12:g.143438596A>G, NC_000004.11:g.144359749A>C, NC_000004.11:g.144359749A>G, NG_083493.1:g.1016A>C, NG_083493.1:g.1016A>G, XM_006714168.5:c.963A>C, XM_006714168.5:c.963A>G, XM_006714168.4:c.963A>C, XM_006714168.4:c.963A>G, XM_006714168.3:c.963A>C, XM_006714168.3:c.963A>G, XM_006714168.2:c.963A>C, XM_006714168.2:c.963A>G, XM_006714168.1:c.963A>C, XM_006714168.1:c.963A>G, XM_006714167.5:c.963A>C, XM_006714167.5:c.963A>G, XM_006714167.4:c.963A>C, XM_006714167.4:c.963A>G, XM_006714167.3:c.963A>C, XM_006714167.3:c.963A>G, XM_006714167.2:c.963A>C, XM_006714167.2:c.963A>G, XM_006714167.1:c.963A>C, XM_006714167.1:c.963A>G, NM_002039.4:c.1191A>C, NM_002039.4:c.1191A>G, NM_002039.3:c.1191A>C, NM_002039.3:c.1191A>G, NM_207123.3:c.1191A>C, NM_207123.3:c.1191A>G, NM_207123.2:c.1191A>C, NM_207123.2:c.1191A>G, XM_017007966.2:c.1233A>C, XM_017007966.2:c.1233A>G, XM_017007966.1:c.1233A>C, XM_017007966.1:c.1233A>G, XM_017007968.2:c.1152A>C, XM_017007968.2:c.1152A>G, XM_017007968.1:c.1152A>C, XM_017007968.1:c.1152A>G, XM_017007970.2:c.963A>C, XM_017007970.2:c.963A>G, XM_017007970.1:c.963A>C, XM_017007970.1:c.963A>G, XM_017007967.2:c.1221A>C, XM_017007967.2:c.1221A>G, XM_017007967.1:c.1221A>C, XM_017007967.1:c.1221A>G, XM_017007969.2:c.963A>C, XM_017007969.2:c.963A>G, XM_017007969.1:c.963A>C, XM_017007969.1:c.963A>G, XM_047449972.1:c.882A>C, XM_047449972.1:c.882A>G, XM_047449973.1:c.963A>C, XM_047449973.1:c.963A>G, XM_047449974.1:c.882A>C, XM_047449974.1:c.882A>G, XM_047449971.1:c.963A>C, XM_047449971.1:c.963A>G, XM_047449968.1:c.1233A>C, XM_047449968.1:c.1233A>G, XM_047449969.1:c.1233A>C, XM_047449969.1:c.1233A>G, XM_047449970.1:c.1140A>C, XM_047449970.1:c.1140A>G

Select item 146391096919.

rs1463910969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:143466154 (GRCh38)
4:144387307 (GRCh37)
Canonical SPDI:: NC_000004.12:143466153:C:T
Gene:: GAB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143466154C>T, NC_000004.11:g.144387307C>T, XM_006714168.5:c.1717C>T, XM_006714168.4:c.1717C>T, XM_006714168.3:c.1717C>T, XM_006714168.2:c.1717C>T, XM_006714168.1:c.1717C>T, XM_006714167.5:c.1717C>T, XM_006714167.4:c.1717C>T, XM_006714167.3:c.1717C>T, XM_006714167.2:c.1717C>T, XM_006714167.1:c.1717C>T, NM_002039.4:c.1855C>T, NM_002039.3:c.1855C>T, NM_207123.3:c.1945C>T, NM_207123.2:c.1945C>T, XM_017007966.2:c.1987C>T, XM_017007966.1:c.1987C>T, XM_017007968.2:c.1906C>T, XM_017007968.1:c.1906C>T, XM_017007970.2:c.1717C>T, XM_017007970.1:c.1717C>T, XM_017007967.2:c.1975C>T, XM_017007967.1:c.1975C>T, XM_017007969.2:c.1717C>T, XM_017007969.1:c.1717C>T, XM_047449972.1:c.1636C>T, XM_047449973.1:c.1627C>T, XM_047449974.1:c.1546C>T, XM_047449971.1:c.1717C>T, XM_047449968.1:c.1987C>T, XM_047449969.1:c.1987C>T, XM_047449970.1:c.1804C>T, XP_006714231.1:p.Pro573Ser, XP_006714230.1:p.Pro573Ser, NP_002030.2:p.Pro619Ser, NP_997006.1:p.Pro649Ser, XP_016863455.1:p.Pro663Ser, XP_016863457.1:p.Pro636Ser, XP_016863459.1:p.Pro573Ser, XP_016863456.1:p.Pro659Ser, XP_016863458.1:p.Pro573Ser, XP_047305928.1:p.Pro546Ser, XP_047305929.1:p.Pro543Ser, XP_047305930.1:p.Pro516Ser, XP_047305927.1:p.Pro573Ser, XP_047305924.1:p.Pro663Ser, XP_047305925.1:p.Pro663Ser, XP_047305926.1:p.Pro602Ser

Select item 146327735520.

rs1463277355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:143337218 (GRCh38)
4:144258371 (GRCh37)
Canonical SPDI:: NC_000004.12:143337217:A:T
Gene:: GAB1 (Varview), LOC124900789 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000004.12:g.143337218A>T, NC_000004.11:g.144258371A>T, NM_002039.4:c.30A>T, NM_002039.3:c.30A>T, NM_207123.3:c.30A>T, NM_207123.2:c.30A>T

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