SNP Links for Protein (Select 768022001) - SNP

Links from Protein

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Select item 14908666181.

rs1490866618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42282330 (GRCh38)
21:43702440 (GRCh37)
Canonical SPDI:: NC_000021.9:42282329:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42282330G>A, NC_000021.8:g.43702440G>A, XM_011529807.4:c.678G>A, XM_011529807.3:c.678G>A, XM_011529807.2:c.678G>A, XM_011529807.1:c.678G>A, NM_004915.4:c.645G>A, NM_004915.3:c.645G>A, NM_016818.3:c.645G>A, NM_016818.2:c.645G>A, XM_024452141.2:c.969G>A, XM_024452141.1:c.969G>A, NM_207627.2:c.651G>A, NM_207627.1:c.651G>A, XM_011529806.2:c.678G>A, XM_011529806.1:c.678G>A, NM_207629.2:c.636G>A, NM_207629.1:c.636G>A, NM_207630.1:c.1083G>A, NM_207628.1:c.579G>A, XM_047441054.1:c.645G>A, XM_047441055.1:c.645G>A, XM_047441053.1:c.678G>A, NM_207174.1:c.678G>A

Select item 14882573502.

rs1488257350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42282324 (GRCh38)
21:43702434 (GRCh37)
Canonical SPDI:: NC_000021.9:42282323:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42282324G>A, NC_000021.8:g.43702434G>A, XM_011529807.4:c.672G>A, XM_011529807.3:c.672G>A, XM_011529807.2:c.672G>A, XM_011529807.1:c.672G>A, NM_004915.4:c.639G>A, NM_004915.3:c.639G>A, NM_016818.3:c.639G>A, NM_016818.2:c.639G>A, XM_024452141.2:c.963G>A, XM_024452141.1:c.963G>A, NM_207627.2:c.645G>A, NM_207627.1:c.645G>A, XM_011529806.2:c.672G>A, XM_011529806.1:c.672G>A, NM_207629.2:c.630G>A, NM_207629.1:c.630G>A, NM_207630.1:c.1077G>A, NM_207628.1:c.573G>A, XM_047441054.1:c.639G>A, XM_047441055.1:c.639G>A, XM_047441053.1:c.672G>A, NM_207174.1:c.672G>A

Select item 14867784993.

rs1486778499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:42285934 (GRCh38)
21:43706044 (GRCh37)
Canonical SPDI:: NC_000021.9:42285933:G:A,NC_000021.9:42285933:G:T
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42285934G>A, NC_000021.9:g.42285934G>T, NC_000021.8:g.43706044G>A, NC_000021.8:g.43706044G>T, XM_011529807.4:c.946G>A, XM_011529807.4:c.946G>T, XM_011529807.3:c.946G>A, XM_011529807.3:c.946G>T, XM_011529807.2:c.946G>A, XM_011529807.2:c.946G>T, XM_011529807.1:c.946G>A, XM_011529807.1:c.946G>T, NM_004915.4:c.913G>A, NM_004915.4:c.913G>T, NM_004915.3:c.913G>A, NM_004915.3:c.913G>T, NM_016818.3:c.913G>A, NM_016818.3:c.913G>T, NM_016818.2:c.913G>A, NM_016818.2:c.913G>T, XM_024452141.2:c.1237G>A, XM_024452141.2:c.1237G>T, XM_024452141.1:c.1237G>A, XM_024452141.1:c.1237G>T, NM_207627.2:c.919G>A, NM_207627.2:c.919G>T, NM_207627.1:c.919G>A, NM_207627.1:c.919G>T, XM_011529806.2:c.946G>A, XM_011529806.2:c.946G>T, XM_011529806.1:c.946G>A, XM_011529806.1:c.946G>T, NM_207629.2:c.904G>A, NM_207629.2:c.904G>T, NM_207629.1:c.904G>A, NM_207629.1:c.904G>T, NM_207630.1:c.1351G>A, NM_207630.1:c.1351G>T, NM_207628.1:c.847G>A, NM_207628.1:c.847G>T, XM_047441054.1:c.913G>A, XM_047441054.1:c.913G>T, XM_047441055.1:c.913G>A, XM_047441055.1:c.913G>T, XM_047441053.1:c.946G>A, XM_047441053.1:c.946G>T, NM_207174.1:c.946G>A, NM_207174.1:c.946G>T, XP_011528109.1:p.Val316Met, XP_011528109.1:p.Val316Leu, NP_004906.3:p.Val305Met, NP_004906.3:p.Val305Leu, NP_058198.2:p.Val305Met, NP_058198.2:p.Val305Leu, XP_024307909.1:p.Val413Met, XP_024307909.1:p.Val413Leu, NP_997510.1:p.Val307Met, NP_997510.1:p.Val307Leu, XP_011528108.1:p.Val316Met, XP_011528108.1:p.Val316Leu, NP_997512.1:p.Val302Met, NP_997512.1:p.Val302Leu, NP_997511.1:p.Val283Met, NP_997511.1:p.Val283Leu, XP_047297010.1:p.Val305Met, XP_047297010.1:p.Val305Leu, XP_047297011.1:p.Val305Met, XP_047297011.1:p.Val305Leu, XP_047297009.1:p.Val316Met, XP_047297009.1:p.Val316Leu, NP_997057.1:p.Val316Met, NP_997057.1:p.Val316Leu

Select item 14863393384.

rs1486339338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42284591 (GRCh38)
21:43704701 (GRCh37)
Canonical SPDI:: NC_000021.9:42284590:G:C
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42284591G>C, NC_000021.8:g.43704701G>C, XM_011529807.4:c.799G>C, XM_011529807.3:c.799G>C, XM_011529807.2:c.799G>C, XM_011529807.1:c.799G>C, NM_004915.4:c.766G>C, NM_004915.3:c.766G>C, NM_016818.3:c.766G>C, NM_016818.2:c.766G>C, XM_024452141.2:c.1090G>C, XM_024452141.1:c.1090G>C, NM_207627.2:c.772G>C, NM_207627.1:c.772G>C, XM_011529806.2:c.799G>C, XM_011529806.1:c.799G>C, NM_207629.2:c.757G>C, NM_207629.1:c.757G>C, NM_207630.1:c.1204G>C, NM_207628.1:c.700G>C, XM_047441054.1:c.766G>C, XM_047441055.1:c.766G>C, XM_047441053.1:c.799G>C, NM_207174.1:c.799G>C, XP_011528109.1:p.Val267Leu, NP_004906.3:p.Val256Leu, NP_058198.2:p.Val256Leu, XP_024307909.1:p.Val364Leu, NP_997510.1:p.Val258Leu, XP_011528108.1:p.Val267Leu, NP_997512.1:p.Val253Leu, NP_997511.1:p.Val234Leu, XP_047297010.1:p.Val256Leu, XP_047297011.1:p.Val256Leu, XP_047297009.1:p.Val267Leu, NP_997057.1:p.Val267Leu

Select item 14834120465.

rs1483412046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42288022 (GRCh38)
21:43708132 (GRCh37)
Canonical SPDI:: NC_000021.9:42288021:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42288022C>T, NC_000021.8:g.43708132C>T, XM_011529807.4:c.1140C>T, XM_011529807.3:c.1140C>T, XM_011529807.2:c.1140C>T, XM_011529807.1:c.1140C>T, NM_004915.4:c.1107C>T, NM_004915.3:c.1107C>T, NM_016818.3:c.1107C>T, NM_016818.2:c.1107C>T, XM_024452141.2:c.1431C>T, XM_024452141.1:c.1431C>T, NM_207627.2:c.1113C>T, NM_207627.1:c.1113C>T, XM_011529806.2:c.1140C>T, XM_011529806.1:c.1140C>T, NM_207629.2:c.1098C>T, NM_207629.1:c.1098C>T, NM_207630.1:c.1545C>T, NM_207628.1:c.1041C>T, XM_047441054.1:c.1107C>T, XM_047441055.1:c.1107C>T, XM_047441053.1:c.1140C>T, NM_207174.1:c.1140C>T

Select item 14781721886.

rs1478172188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42285948 (GRCh38)
21:43706058 (GRCh37)
Canonical SPDI:: NC_000021.9:42285947:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42285948G>A, NC_000021.8:g.43706058G>A, XM_011529807.4:c.960G>A, XM_011529807.3:c.960G>A, XM_011529807.2:c.960G>A, XM_011529807.1:c.960G>A, NM_004915.4:c.927G>A, NM_004915.3:c.927G>A, NM_016818.3:c.927G>A, NM_016818.2:c.927G>A, XM_024452141.2:c.1251G>A, XM_024452141.1:c.1251G>A, NM_207627.2:c.933G>A, NM_207627.1:c.933G>A, XM_011529806.2:c.960G>A, XM_011529806.1:c.960G>A, NM_207629.2:c.918G>A, NM_207629.1:c.918G>A, NM_207630.1:c.1365G>A, NM_207628.1:c.861G>A, XM_047441054.1:c.927G>A, XM_047441055.1:c.927G>A, XM_047441053.1:c.960G>A, NM_207174.1:c.960G>A

Select item 14776261507.

rs1477626150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42285962 (GRCh38)
21:43706072 (GRCh37)
Canonical SPDI:: NC_000021.9:42285961:A:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42285962A>G, NC_000021.8:g.43706072A>G, XM_011529807.4:c.974A>G, XM_011529807.3:c.974A>G, XM_011529807.2:c.974A>G, XM_011529807.1:c.974A>G, NM_004915.4:c.941A>G, NM_004915.3:c.941A>G, NM_016818.3:c.941A>G, NM_016818.2:c.941A>G, XM_024452141.2:c.1265A>G, XM_024452141.1:c.1265A>G, NM_207627.2:c.947A>G, NM_207627.1:c.947A>G, XM_011529806.2:c.974A>G, XM_011529806.1:c.974A>G, NM_207629.2:c.932A>G, NM_207629.1:c.932A>G, NM_207630.1:c.1379A>G, NM_207628.1:c.875A>G, XM_047441054.1:c.941A>G, XM_047441055.1:c.941A>G, XM_047441053.1:c.974A>G, NM_207174.1:c.974A>G, XP_011528109.1:p.Asn325Ser, NP_004906.3:p.Asn314Ser, NP_058198.2:p.Asn314Ser, XP_024307909.1:p.Asn422Ser, NP_997510.1:p.Asn316Ser, XP_011528108.1:p.Asn325Ser, NP_997512.1:p.Asn311Ser, NP_997511.1:p.Asn292Ser, XP_047297010.1:p.Asn314Ser, XP_047297011.1:p.Asn314Ser, XP_047297009.1:p.Asn325Ser, NP_997057.1:p.Asn325Ser

Select item 14771933628.

rs1477193362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:42288026 (GRCh38)
21:43708136 (GRCh37)
Canonical SPDI:: NC_000021.9:42288025:C:A,NC_000021.9:42288025:C:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42288026C>A, NC_000021.9:g.42288026C>G, NC_000021.8:g.43708136C>A, NC_000021.8:g.43708136C>G, XM_011529807.4:c.1144C>A, XM_011529807.4:c.1144C>G, XM_011529807.3:c.1144C>A, XM_011529807.3:c.1144C>G, XM_011529807.2:c.1144C>A, XM_011529807.2:c.1144C>G, XM_011529807.1:c.1144C>A, XM_011529807.1:c.1144C>G, NM_004915.4:c.1111C>A, NM_004915.4:c.1111C>G, NM_004915.3:c.1111C>A, NM_004915.3:c.1111C>G, NM_016818.3:c.1111C>A, NM_016818.3:c.1111C>G, NM_016818.2:c.1111C>A, NM_016818.2:c.1111C>G, XM_024452141.2:c.1435C>A, XM_024452141.2:c.1435C>G, XM_024452141.1:c.1435C>A, XM_024452141.1:c.1435C>G, NM_207627.2:c.1117C>A, NM_207627.2:c.1117C>G, NM_207627.1:c.1117C>A, NM_207627.1:c.1117C>G, XM_011529806.2:c.1144C>A, XM_011529806.2:c.1144C>G, XM_011529806.1:c.1144C>A, XM_011529806.1:c.1144C>G, NM_207629.2:c.1102C>A, NM_207629.2:c.1102C>G, NM_207629.1:c.1102C>A, NM_207629.1:c.1102C>G, NM_207630.1:c.1549C>A, NM_207630.1:c.1549C>G, NM_207628.1:c.1045C>A, NM_207628.1:c.1045C>G, XM_047441054.1:c.1111C>A, XM_047441054.1:c.1111C>G, XM_047441055.1:c.1111C>A, XM_047441055.1:c.1111C>G, XM_047441053.1:c.1144C>A, XM_047441053.1:c.1144C>G, NM_207174.1:c.1144C>A, NM_207174.1:c.1144C>G, XP_011528109.1:p.Pro382Thr, XP_011528109.1:p.Pro382Ala, NP_004906.3:p.Pro371Thr, NP_004906.3:p.Pro371Ala, NP_058198.2:p.Pro371Thr, NP_058198.2:p.Pro371Ala, XP_024307909.1:p.Pro479Thr, XP_024307909.1:p.Pro479Ala, NP_997510.1:p.Pro373Thr, NP_997510.1:p.Pro373Ala, XP_011528108.1:p.Pro382Thr, XP_011528108.1:p.Pro382Ala, NP_997512.1:p.Pro368Thr, NP_997512.1:p.Pro368Ala, NP_997511.1:p.Pro349Thr, NP_997511.1:p.Pro349Ala, XP_047297010.1:p.Pro371Thr, XP_047297010.1:p.Pro371Ala, XP_047297011.1:p.Pro371Thr, XP_047297011.1:p.Pro371Ala, XP_047297009.1:p.Pro382Thr, XP_047297009.1:p.Pro382Ala, NP_997057.1:p.Pro382Thr, NP_997057.1:p.Pro382Ala

Select item 14761101479.

rs1476110147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42291592 (GRCh38)
21:43711702 (GRCh37)
Canonical SPDI:: NC_000021.9:42291591:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.42291592C>T, NC_000021.8:g.43711702C>T, XM_011529807.4:c.1658C>T, XM_011529807.3:c.1658C>T, XM_011529807.2:c.1658C>T, XM_011529807.1:c.1658C>T, NM_004915.4:c.1625C>T, NM_004915.3:c.1625C>T, NM_016818.3:c.1589C>T, NM_016818.2:c.1589C>T, XM_024452141.2:c.1949C>T, XM_024452141.1:c.1949C>T, NM_207627.2:c.1595C>T, NM_207627.1:c.1595C>T, XM_011529806.2:c.1658C>T, XM_011529806.1:c.1658C>T, NM_207629.2:c.1580C>T, NM_207629.1:c.1580C>T, NM_207630.1:c.2063C>T, NM_207628.1:c.1523C>T, XM_047441054.1:c.1625C>T, XM_047441055.1:c.1589C>T, XM_047441053.1:c.1622C>T, NM_207174.1:c.1622C>T, XP_011528109.1:p.Thr553Ile, NP_004906.3:p.Thr542Ile, NP_058198.2:p.Thr530Ile, XP_024307909.1:p.Thr650Ile, NP_997510.1:p.Thr532Ile, XP_011528108.1:p.Thr553Ile, NP_997512.1:p.Thr527Ile, NP_997511.1:p.Thr508Ile, XP_047297010.1:p.Thr542Ile, XP_047297011.1:p.Thr530Ile, XP_047297009.1:p.Thr541Ile, NP_997057.1:p.Thr541Ile

Select item 146817379510.

rs1468173795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42294564 (GRCh38)
21:43714674 (GRCh37)
Canonical SPDI:: NC_000021.9:42294563:T:C
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42294564T>C, NC_000021.8:g.43714674T>C, XM_011529807.4:c.1767T>C, XM_011529807.3:c.1767T>C, XM_011529807.2:c.1767T>C, XM_011529807.1:c.1767T>C, NM_004915.4:c.1712T>C, NM_004915.3:c.1712T>C, NM_016818.3:c.1676T>C, NM_016818.2:c.1676T>C, XM_024452141.2:c.2036T>C, XM_024452141.1:c.2036T>C, NM_207627.2:c.1682T>C, NM_207627.1:c.1682T>C, XM_011529806.2:c.1745T>C, XM_011529806.1:c.1745T>C, NM_207629.2:c.1667T>C, NM_207629.1:c.1667T>C, NM_207630.1:c.2150T>C, NM_207628.1:c.1610T>C, XM_047441054.1:c.1734T>C, XM_047441055.1:c.1698T>C, XM_047441053.1:c.1731T>C, NM_207174.1:c.1709T>C, NP_004906.3:p.Val571Ala, NP_058198.2:p.Val559Ala, XP_024307909.1:p.Val679Ala, NP_997510.1:p.Val561Ala, XP_011528108.1:p.Val582Ala, NP_997512.1:p.Val556Ala, NP_997511.1:p.Val537Ala, NP_997057.1:p.Val570Ala

Select item 146652722511.

rs1466527225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42296199 (GRCh38)
21:43716309 (GRCh37)
Canonical SPDI:: NC_000021.9:42296198:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42296199G>A, NC_000021.8:g.43716309G>A, XM_011529807.4:c.1899G>A, XM_011529807.3:c.1899G>A, XM_011529807.2:c.1899G>A, XM_011529807.1:c.1899G>A, NM_004915.4:c.1844G>A, NM_004915.3:c.1844G>A, NM_016818.3:c.1808G>A, NM_016818.2:c.1808G>A, XM_024452141.2:c.2168G>A, XM_024452141.1:c.2168G>A, NM_207627.2:c.1814G>A, NM_207627.1:c.1814G>A, XM_011529806.2:c.1877G>A, XM_011529806.1:c.1877G>A, NM_207629.2:c.1799G>A, NM_207629.1:c.1799G>A, NM_207630.1:c.2282G>A, NM_207628.1:c.1742G>A, XM_047441054.1:c.1866G>A, XM_047441055.1:c.1830G>A, XM_047441053.1:c.1863G>A, NM_207174.1:c.1841G>A, XP_011528109.1:p.Trp633Ter, NP_004906.3:p.Gly615Asp, NP_058198.2:p.Gly603Asp, XP_024307909.1:p.Gly723Asp, NP_997510.1:p.Gly605Asp, XP_011528108.1:p.Gly626Asp, NP_997512.1:p.Gly600Asp, NP_997511.1:p.Gly581Asp, XP_047297010.1:p.Trp622Ter, XP_047297011.1:p.Trp610Ter, XP_047297009.1:p.Trp621Ter, NP_997057.1:p.Gly614Asp

Select item 146457785412.

rs1464577854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:42287986 (GRCh38)
21:43708096 (GRCh37)
Canonical SPDI:: NC_000021.9:42287985:C:G,NC_000021.9:42287985:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.42287986C>G, NC_000021.9:g.42287986C>T, NC_000021.8:g.43708096C>G, NC_000021.8:g.43708096C>T, XM_011529807.4:c.1104C>G, XM_011529807.4:c.1104C>T, XM_011529807.3:c.1104C>G, XM_011529807.3:c.1104C>T, XM_011529807.2:c.1104C>G, XM_011529807.2:c.1104C>T, XM_011529807.1:c.1104C>G, XM_011529807.1:c.1104C>T, NM_004915.4:c.1071C>G, NM_004915.4:c.1071C>T, NM_004915.3:c.1071C>G, NM_004915.3:c.1071C>T, NM_016818.3:c.1071C>G, NM_016818.3:c.1071C>T, NM_016818.2:c.1071C>G, NM_016818.2:c.1071C>T, XM_024452141.2:c.1395C>G, XM_024452141.2:c.1395C>T, XM_024452141.1:c.1395C>G, XM_024452141.1:c.1395C>T, NM_207627.2:c.1077C>G, NM_207627.2:c.1077C>T, NM_207627.1:c.1077C>G, NM_207627.1:c.1077C>T, XM_011529806.2:c.1104C>G, XM_011529806.2:c.1104C>T, XM_011529806.1:c.1104C>G, XM_011529806.1:c.1104C>T, NM_207629.2:c.1062C>G, NM_207629.2:c.1062C>T, NM_207629.1:c.1062C>G, NM_207629.1:c.1062C>T, NM_207630.1:c.1509C>G, NM_207630.1:c.1509C>T, NM_207628.1:c.1005C>G, NM_207628.1:c.1005C>T, XM_047441054.1:c.1071C>G, XM_047441054.1:c.1071C>T, XM_047441055.1:c.1071C>G, XM_047441055.1:c.1071C>T, XM_047441053.1:c.1104C>G, XM_047441053.1:c.1104C>T, NM_207174.1:c.1104C>G, NM_207174.1:c.1104C>T

Select item 146299732513.

rs1462997325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:42284664 (GRCh38)
21:43704774 (GRCh37)
Canonical SPDI:: NC_000021.9:42284663:T:A
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42284664T>A, NC_000021.8:g.43704774T>A, XM_011529807.4:c.872T>A, XM_011529807.3:c.872T>A, XM_011529807.2:c.872T>A, XM_011529807.1:c.872T>A, NM_004915.4:c.839T>A, NM_004915.3:c.839T>A, NM_016818.3:c.839T>A, NM_016818.2:c.839T>A, XM_024452141.2:c.1163T>A, XM_024452141.1:c.1163T>A, NM_207627.2:c.845T>A, NM_207627.1:c.845T>A, XM_011529806.2:c.872T>A, XM_011529806.1:c.872T>A, NM_207629.2:c.830T>A, NM_207629.1:c.830T>A, NM_207630.1:c.1277T>A, NM_207628.1:c.773T>A, XM_047441054.1:c.839T>A, XM_047441055.1:c.839T>A, XM_047441053.1:c.872T>A, NM_207174.1:c.872T>A, XP_011528109.1:p.Leu291His, NP_004906.3:p.Leu280His, NP_058198.2:p.Leu280His, XP_024307909.1:p.Leu388His, NP_997510.1:p.Leu282His, XP_011528108.1:p.Leu291His, NP_997512.1:p.Leu277His, NP_997511.1:p.Leu258His, XP_047297010.1:p.Leu280His, XP_047297011.1:p.Leu280His, XP_047297009.1:p.Leu291His, NP_997057.1:p.Leu291His

Select item 146275989414.

rs1462759894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42225865 (GRCh38)
21:43645975 (GRCh37)
Canonical SPDI:: NC_000021.9:42225864:C:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42225865C>G, NC_000021.8:g.43645975C>G, XM_011529807.4:c.270C>G, XM_011529807.3:c.270C>G, XM_011529807.2:c.270C>G, XM_011529807.1:c.270C>G, NM_004915.4:c.237C>G, NM_004915.3:c.237C>G, NM_016818.3:c.237C>G, NM_016818.2:c.237C>G, NM_207627.2:c.243C>G, NM_207627.1:c.243C>G, XM_011529806.2:c.270C>G, XM_011529806.1:c.270C>G, NM_207629.2:c.228C>G, NM_207629.1:c.228C>G, NM_207628.1:c.171C>G, XM_047441054.1:c.237C>G, XM_047441055.1:c.237C>G, XM_047441053.1:c.270C>G, NM_207174.1:c.270C>G, XP_011528109.1:p.Phe90Leu, NP_004906.3:p.Phe79Leu, NP_058198.2:p.Phe79Leu, NP_997510.1:p.Phe81Leu, XP_011528108.1:p.Phe90Leu, NP_997512.1:p.Phe76Leu, NP_997511.1:p.Phe57Leu, XP_047297010.1:p.Phe79Leu, XP_047297011.1:p.Phe79Leu, XP_047297009.1:p.Phe90Leu, NP_997057.1:p.Phe90Leu

Select item 145932256615.

rs1459322566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42285956 (GRCh38)
21:43706066 (GRCh37)
Canonical SPDI:: NC_000021.9:42285955:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42285956G>A, NC_000021.8:g.43706066G>A, XM_011529807.4:c.968G>A, XM_011529807.3:c.968G>A, XM_011529807.2:c.968G>A, XM_011529807.1:c.968G>A, NM_004915.4:c.935G>A, NM_004915.3:c.935G>A, NM_016818.3:c.935G>A, NM_016818.2:c.935G>A, XM_024452141.2:c.1259G>A, XM_024452141.1:c.1259G>A, NM_207627.2:c.941G>A, NM_207627.1:c.941G>A, XM_011529806.2:c.968G>A, XM_011529806.1:c.968G>A, NM_207629.2:c.926G>A, NM_207629.1:c.926G>A, NM_207630.1:c.1373G>A, NM_207628.1:c.869G>A, XM_047441054.1:c.935G>A, XM_047441055.1:c.935G>A, XM_047441053.1:c.968G>A, NM_207174.1:c.968G>A, XP_011528109.1:p.Gly323Asp, NP_004906.3:p.Gly312Asp, NP_058198.2:p.Gly312Asp, XP_024307909.1:p.Gly420Asp, NP_997510.1:p.Gly314Asp, XP_011528108.1:p.Gly323Asp, NP_997512.1:p.Gly309Asp, NP_997511.1:p.Gly290Asp, XP_047297010.1:p.Gly312Asp, XP_047297011.1:p.Gly312Asp, XP_047297009.1:p.Gly323Asp, NP_997057.1:p.Gly323Asp

Select item 145930657316.

rs1459306573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42291620 (GRCh38)
21:43711730 (GRCh37)
Canonical SPDI:: NC_000021.9:42291619:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42291620G>A, NC_000021.8:g.43711730G>A, XM_011529807.4:c.1686G>A, XM_011529807.3:c.1686G>A, XM_011529807.2:c.1686G>A, XM_011529807.1:c.1686G>A, NM_004915.4:c.1653G>A, NM_004915.3:c.1653G>A, NM_016818.3:c.1617G>A, NM_016818.2:c.1617G>A, XM_024452141.2:c.1977G>A, XM_024452141.1:c.1977G>A, NM_207627.2:c.1623G>A, NM_207627.1:c.1623G>A, XM_011529806.2:c.1686G>A, XM_011529806.1:c.1686G>A, NM_207629.2:c.1608G>A, NM_207629.1:c.1608G>A, NM_207630.1:c.2091G>A, NM_207628.1:c.1551G>A, XM_047441054.1:c.1653G>A, XM_047441055.1:c.1617G>A, XM_047441053.1:c.1650G>A, NM_207174.1:c.1650G>A

Select item 145916732717.

rs1459167327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:42219975 (GRCh38)
21:43640085 (GRCh37)
Canonical SPDI:: NC_000021.9:42219974:C:A,NC_000021.9:42219974:C:T
Gene:: ABCG1 (Varview), LOC105372814 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000021.9:g.42219975C>A, NC_000021.9:g.42219975C>T, NC_000021.8:g.43640085C>A, NC_000021.8:g.43640085C>T, XM_011529807.4:c.4C>A, XM_011529807.4:c.4C>T, XM_011529807.3:c.4C>A, XM_011529807.3:c.4C>T, XM_011529807.2:c.4C>A, XM_011529807.2:c.4C>T, XM_011529807.1:c.4C>A, XM_011529807.1:c.4C>T, XM_011529806.2:c.4C>A, XM_011529806.2:c.4C>T, XM_011529806.1:c.4C>A, XM_011529806.1:c.4C>T, XM_047441053.1:c.4C>A, XM_047441053.1:c.4C>T, NM_207174.1:c.4C>A, NM_207174.1:c.4C>T, XP_011528109.1:p.Arg2Ser, XP_011528109.1:p.Arg2Cys, XP_011528108.1:p.Arg2Ser, XP_011528108.1:p.Arg2Cys, XP_047297009.1:p.Arg2Ser, XP_047297009.1:p.Arg2Cys, NP_997057.1:p.Arg2Ser, NP_997057.1:p.Arg2Cys

Select item 145913678318.

rs1459136783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42271186 (GRCh38)
21:43691296 (GRCh37)
Canonical SPDI:: NC_000021.9:42271185:A:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42271186A>G, NC_000021.8:g.43691296A>G, XM_011529807.4:c.436A>G, XM_011529807.3:c.436A>G, XM_011529807.2:c.436A>G, XM_011529807.1:c.436A>G, NM_004915.4:c.403A>G, NM_004915.3:c.403A>G, NM_016818.3:c.403A>G, NM_016818.2:c.403A>G, XM_024452141.2:c.727A>G, XM_024452141.1:c.727A>G, NM_207627.2:c.409A>G, NM_207627.1:c.409A>G, XM_011529806.2:c.436A>G, XM_011529806.1:c.436A>G, NM_207629.2:c.394A>G, NM_207629.1:c.394A>G, NM_207630.1:c.841A>G, NM_207628.1:c.337A>G, XM_047441054.1:c.403A>G, XM_047441055.1:c.403A>G, XM_047441053.1:c.436A>G, NM_207174.1:c.436A>G, XP_011528109.1:p.Arg146Gly, NP_004906.3:p.Arg135Gly, NP_058198.2:p.Arg135Gly, XP_024307909.1:p.Arg243Gly, NP_997510.1:p.Arg137Gly, XP_011528108.1:p.Arg146Gly, NP_997512.1:p.Arg132Gly, NP_997511.1:p.Arg113Gly, XP_047297010.1:p.Arg135Gly, XP_047297011.1:p.Arg135Gly, XP_047297009.1:p.Arg146Gly, NP_997057.1:p.Arg146Gly

Select item 145868355419.

rs1458683554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42285978 (GRCh38)
21:43706088 (GRCh37)
Canonical SPDI:: NC_000021.9:42285977:C:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42285978C>G, NC_000021.8:g.43706088C>G, XM_011529807.4:c.990C>G, XM_011529807.3:c.990C>G, XM_011529807.2:c.990C>G, XM_011529807.1:c.990C>G, NM_004915.4:c.957C>G, NM_004915.3:c.957C>G, NM_016818.3:c.957C>G, NM_016818.2:c.957C>G, XM_024452141.2:c.1281C>G, XM_024452141.1:c.1281C>G, NM_207627.2:c.963C>G, NM_207627.1:c.963C>G, XM_011529806.2:c.990C>G, XM_011529806.1:c.990C>G, NM_207629.2:c.948C>G, NM_207629.1:c.948C>G, NM_207630.1:c.1395C>G, NM_207628.1:c.891C>G, XM_047441054.1:c.957C>G, XM_047441055.1:c.957C>G, XM_047441053.1:c.990C>G, NM_207174.1:c.990C>G, XP_011528109.1:p.His330Gln, NP_004906.3:p.His319Gln, NP_058198.2:p.His319Gln, XP_024307909.1:p.His427Gln, NP_997510.1:p.His321Gln, XP_011528108.1:p.His330Gln, NP_997512.1:p.His316Gln, NP_997511.1:p.His297Gln, XP_047297010.1:p.His319Gln, XP_047297011.1:p.His319Gln, XP_047297009.1:p.His330Gln, NP_997057.1:p.His330Gln

Select item 145492149120.

rs1454921491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42290097 (GRCh38)
21:43710207 (GRCh37)
Canonical SPDI:: NC_000021.9:42290096:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42290097C>T, NC_000021.8:g.43710207C>T, XM_011529807.4:c.1341C>T, XM_011529807.3:c.1341C>T, XM_011529807.2:c.1341C>T, XM_011529807.1:c.1341C>T, NM_004915.4:c.1308C>T, NM_004915.3:c.1308C>T, NM_016818.3:c.1272C>T, NM_016818.2:c.1272C>T, XM_024452141.2:c.1632C>T, XM_024452141.1:c.1632C>T, NM_207627.2:c.1278C>T, NM_207627.1:c.1278C>T, XM_011529806.2:c.1341C>T, XM_011529806.1:c.1341C>T, NM_207629.2:c.1263C>T, NM_207629.1:c.1263C>T, NM_207630.1:c.1746C>T, NM_207628.1:c.1206C>T, XM_047441054.1:c.1308C>T, XM_047441055.1:c.1272C>T, XM_047441053.1:c.1305C>T, NM_207174.1:c.1305C>T

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