SNP Links for Protein (Select 767942436) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 269

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Select item 14877892591.

rs1487789259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108323998 (GRCh38)
6:108645202 (GRCh37)
Canonical SPDI:: NC_000006.12:108323997:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108323998C>T, NC_000006.11:g.108645202C>T, NM_145315.5:c.313C>T, NM_145315.4:c.313C>T, NM_145315.3:c.313C>T, XM_005266885.4:c.214C>T, XM_005266885.3:c.214C>T, XM_005266885.2:c.214C>T, XM_005266885.1:c.214C>T, XM_011535659.4:c.313C>T, XM_011535659.3:c.313C>T, XM_011535659.2:c.313C>T, XM_011535659.1:c.313C>T, XM_011535661.3:c.313C>T, XM_011535661.2:c.313C>T, XM_011535661.1:c.313C>T, XM_011535657.3:c.313C>T, XM_011535657.2:c.313C>T, XM_011535657.1:c.313C>T, XM_011535660.3:c.313C>T, XM_011535660.2:c.313C>T, XM_011535660.1:c.313C>T, NM_001323005.2:c.313C>T, NM_001323005.1:c.313C>T, XM_047418557.1:c.205C>T, XM_047418558.1:c.-65C>T, XM_047418559.1:c.-98C>T, XR_007059229.1:n.339C>T, NP_660358.2:p.His105Tyr, XP_005266942.1:p.His72Tyr, XP_011533961.1:p.His105Tyr, XP_011533963.1:p.His105Tyr, XP_011533959.1:p.His105Tyr, XP_011533962.1:p.His105Tyr, NP_001309934.1:p.His105Tyr, XP_047274513.1:p.His69Tyr

Select item 14859461632.

rs1485946163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108295192 (GRCh38)
6:108616396 (GRCh37)
Canonical SPDI:: NC_000006.12:108295191:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108295192C>T, NC_000006.11:g.108616396C>T, NM_145315.5:c.113C>T, NM_145315.4:c.113C>T, NM_145315.3:c.113C>T, XM_011535659.4:c.113C>T, XM_011535659.3:c.113C>T, XM_011535659.2:c.113C>T, XM_011535659.1:c.113C>T, XM_011535661.3:c.113C>T, XM_011535661.2:c.113C>T, XM_011535661.1:c.113C>T, XM_011535657.3:c.113C>T, XM_011535657.2:c.113C>T, XM_011535657.1:c.113C>T, XM_011535660.3:c.113C>T, XM_011535660.2:c.113C>T, XM_011535660.1:c.113C>T, NM_001323005.2:c.113C>T, NM_001323005.1:c.113C>T, NR_136553.2:n.139C>T, NR_136553.1:n.319C>T, XR_007059229.1:n.139C>T, NP_660358.2:p.Thr38Ile, XP_011533961.1:p.Thr38Ile, XP_011533963.1:p.Thr38Ile, XP_011533959.1:p.Thr38Ile, XP_011533962.1:p.Thr38Ile, NP_001309934.1:p.Thr38Ile

Select item 14848462283.

rs1484846228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108372906 (GRCh38)
6:108694110 (GRCh37)
Canonical SPDI:: NC_000006.12:108372905:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108372906T>C, NC_000006.11:g.108694110T>C, NG_030183.1:g.122A>G, XM_011535661.3:c.763T>C, XM_011535661.2:c.763T>C, XM_011535661.1:c.763T>C, XP_011533963.1:p.Ter255Arg

Select item 14844733064.

rs1484473306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108323880 (GRCh38)
6:108645084 (GRCh37)
Canonical SPDI:: NC_000006.12:108323879:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108323880T>C, NC_000006.11:g.108645084T>C, NM_145315.5:c.195T>C, NM_145315.4:c.195T>C, NM_145315.3:c.195T>C, XM_005266885.4:c.96T>C, XM_005266885.3:c.96T>C, XM_005266885.2:c.96T>C, XM_005266885.1:c.96T>C, XM_011535659.4:c.195T>C, XM_011535659.3:c.195T>C, XM_011535659.2:c.195T>C, XM_011535659.1:c.195T>C, XM_011535661.3:c.195T>C, XM_011535661.2:c.195T>C, XM_011535661.1:c.195T>C, XM_011535657.3:c.195T>C, XM_011535657.2:c.195T>C, XM_011535657.1:c.195T>C, XM_011535660.3:c.195T>C, XM_011535660.2:c.195T>C, XM_011535660.1:c.195T>C, NM_001323005.2:c.195T>C, NM_001323005.1:c.195T>C, XM_047418557.1:c.87T>C, XR_007059229.1:n.221T>C

Select item 14757790335.

rs1475779033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108324028 (GRCh38)
6:108645232 (GRCh37)
Canonical SPDI:: NC_000006.12:108324027:G:A
Gene:: AFG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108324028G>A, NC_000006.11:g.108645232G>A, NM_145315.5:c.343G>A, NM_145315.4:c.343G>A, NM_145315.3:c.343G>A, XM_005266885.4:c.244G>A, XM_005266885.3:c.244G>A, XM_005266885.2:c.244G>A, XM_005266885.1:c.244G>A, XM_011535659.4:c.343G>A, XM_011535659.3:c.343G>A, XM_011535659.2:c.343G>A, XM_011535659.1:c.343G>A, XM_011535661.3:c.343G>A, XM_011535661.2:c.343G>A, XM_011535661.1:c.343G>A, XM_011535657.3:c.343G>A, XM_011535657.2:c.343G>A, XM_011535657.1:c.343G>A, XM_011535660.3:c.343G>A, XM_011535660.2:c.343G>A, XM_011535660.1:c.343G>A, NM_001323005.2:c.343G>A, NM_001323005.1:c.343G>A, XM_047418557.1:c.235G>A, XM_047418558.1:c.-35G>A, XM_047418559.1:c.-68G>A, XR_007059229.1:n.369G>A, NP_660358.2:p.Ala115Thr, XP_005266942.1:p.Ala82Thr, XP_011533961.1:p.Ala115Thr, XP_011533963.1:p.Ala115Thr, XP_011533959.1:p.Ala115Thr, XP_011533962.1:p.Ala115Thr, NP_001309934.1:p.Ala115Thr, XP_047274513.1:p.Ala79Thr

Select item 14752296646.

rs1475229664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:108356737 (GRCh38)
6:108677941 (GRCh37)
Canonical SPDI:: NC_000006.12:108356736:A:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108356737A>T, NC_000006.11:g.108677941A>T, NM_145315.5:c.565A>T, NM_145315.4:c.565A>T, NM_145315.3:c.565A>T, XM_005266885.4:c.466A>T, XM_005266885.3:c.466A>T, XM_005266885.2:c.466A>T, XM_005266885.1:c.466A>T, XM_011535659.4:c.565A>T, XM_011535659.3:c.565A>T, XM_011535659.2:c.565A>T, XM_011535659.1:c.565A>T, XM_011535661.3:c.565A>T, XM_011535661.2:c.565A>T, XM_011535661.1:c.565A>T, XM_011535657.3:c.463A>T, XM_011535657.2:c.463A>T, XM_011535657.1:c.463A>T, XM_011535660.3:c.565A>T, XM_011535660.2:c.565A>T, XM_011535660.1:c.565A>T, XM_017010648.2:c.136A>T, XM_017010648.1:c.136A>T, NM_001323005.2:c.565A>T, NM_001323005.1:c.565A>T, NR_136553.2:n.213A>T, NR_136553.1:n.393A>T, XM_047418557.1:c.457A>T, XM_047418558.1:c.136A>T, XM_047418559.1:c.1A>T, XR_007059229.1:n.591A>T, NP_660358.2:p.Met189Leu, XP_005266942.1:p.Met156Leu, XP_011533961.1:p.Met189Leu, XP_011533963.1:p.Met189Leu, XP_011533959.1:p.Met155Leu, XP_011533962.1:p.Met189Leu, XP_016866137.1:p.Met46Leu, NP_001309934.1:p.Met189Leu, XP_047274513.1:p.Met153Leu, XP_047274514.1:p.Met46Leu, XP_047274515.1:p.Met1Leu

Select item 14708626837.

rs1470862683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108324041 (GRCh38)
6:108645245 (GRCh37)
Canonical SPDI:: NC_000006.12:108324040:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108324041T>C, NC_000006.11:g.108645245T>C, NM_145315.5:c.356T>C, NM_145315.4:c.356T>C, NM_145315.3:c.356T>C, XM_005266885.4:c.257T>C, XM_005266885.3:c.257T>C, XM_005266885.2:c.257T>C, XM_005266885.1:c.257T>C, XM_011535659.4:c.356T>C, XM_011535659.3:c.356T>C, XM_011535659.2:c.356T>C, XM_011535659.1:c.356T>C, XM_011535661.3:c.356T>C, XM_011535661.2:c.356T>C, XM_011535661.1:c.356T>C, XM_011535657.3:c.356T>C, XM_011535657.2:c.356T>C, XM_011535657.1:c.356T>C, XM_011535660.3:c.356T>C, XM_011535660.2:c.356T>C, XM_011535660.1:c.356T>C, NM_001323005.2:c.356T>C, NM_001323005.1:c.356T>C, XM_047418557.1:c.248T>C, XM_047418558.1:c.-22T>C, XM_047418559.1:c.-55T>C, XR_007059229.1:n.382T>C, NP_660358.2:p.Phe119Ser, XP_005266942.1:p.Phe86Ser, XP_011533961.1:p.Phe119Ser, XP_011533963.1:p.Phe119Ser, XP_011533959.1:p.Phe119Ser, XP_011533962.1:p.Phe119Ser, NP_001309934.1:p.Phe119Ser, XP_047274513.1:p.Phe83Ser

Select item 14707306918.

rs1470730691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:108295162 (GRCh38)
6:108616366 (GRCh37)
Canonical SPDI:: NC_000006.12:108295161:C:G
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.108295162C>G, NC_000006.11:g.108616366C>G, NM_145315.5:c.83C>G, NM_145315.4:c.83C>G, NM_145315.3:c.83C>G, XM_011535659.4:c.83C>G, XM_011535659.3:c.83C>G, XM_011535659.2:c.83C>G, XM_011535659.1:c.83C>G, XM_011535661.3:c.83C>G, XM_011535661.2:c.83C>G, XM_011535661.1:c.83C>G, XM_011535657.3:c.83C>G, XM_011535657.2:c.83C>G, XM_011535657.1:c.83C>G, XM_011535660.3:c.83C>G, XM_011535660.2:c.83C>G, XM_011535660.1:c.83C>G, NM_001323005.2:c.83C>G, NM_001323005.1:c.83C>G, NR_136553.2:n.109C>G, NR_136553.1:n.289C>G, XR_007059229.1:n.109C>G, NP_660358.2:p.Ala28Gly, XP_011533961.1:p.Ala28Gly, XP_011533963.1:p.Ala28Gly, XP_011533959.1:p.Ala28Gly, XP_011533962.1:p.Ala28Gly, NP_001309934.1:p.Ala28Gly

Select item 14700054699.

rs1470005469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108356700 (GRCh38)
6:108677904 (GRCh37)
Canonical SPDI:: NC_000006.12:108356699:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_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_000006.12:g.108356700C>T, NC_000006.11:g.108677904C>T, NM_145315.5:c.528C>T, NM_145315.4:c.528C>T, NM_145315.3:c.528C>T, XM_005266885.4:c.429C>T, XM_005266885.3:c.429C>T, XM_005266885.2:c.429C>T, XM_005266885.1:c.429C>T, XM_011535659.4:c.528C>T, XM_011535659.3:c.528C>T, XM_011535659.2:c.528C>T, XM_011535659.1:c.528C>T, XM_011535661.3:c.528C>T, XM_011535661.2:c.528C>T, XM_011535661.1:c.528C>T, XM_011535657.3:c.426C>T, XM_011535657.2:c.426C>T, XM_011535657.1:c.426C>T, XM_011535660.3:c.528C>T, XM_011535660.2:c.528C>T, XM_011535660.1:c.528C>T, XM_017010648.2:c.99C>T, XM_017010648.1:c.99C>T, NM_001323005.2:c.528C>T, NM_001323005.1:c.528C>T, NR_136553.2:n.176C>T, NR_136553.1:n.356C>T, XM_047418557.1:c.420C>T, XM_047418558.1:c.99C>T, XM_047418559.1:c.-37C>T, XR_007059229.1:n.554C>T

Select item 146646216910.

rs1466462169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:108372900 (GRCh38)
6:108694104 (GRCh37)
Canonical SPDI:: NC_000006.12:108372899:T:G
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000006.12:g.108372900T>G, NC_000006.11:g.108694104T>G, NG_030183.1:g.128A>C, XM_011535661.3:c.757T>G, XM_011535661.2:c.757T>G, XM_011535661.1:c.757T>G, XP_011533963.1:p.Leu253Val

Select item 146309055411.

rs1463090554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:108356793 (GRCh38)
6:108677997 (GRCh37)
Canonical SPDI:: NC_000006.12:108356792:A:T
Gene:: AFG1L (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108356793A>T, NC_000006.11:g.108677997A>T, NM_145315.5:c.621A>T, NM_145315.4:c.621A>T, NM_145315.3:c.621A>T, XM_005266885.4:c.522A>T, XM_005266885.3:c.522A>T, XM_005266885.2:c.522A>T, XM_005266885.1:c.522A>T, XM_011535659.4:c.621A>T, XM_011535659.3:c.621A>T, XM_011535659.2:c.621A>T, XM_011535659.1:c.621A>T, XM_011535661.3:c.621A>T, XM_011535661.2:c.621A>T, XM_011535661.1:c.621A>T, XM_011535657.3:c.519A>T, XM_011535657.2:c.519A>T, XM_011535657.1:c.519A>T, XM_011535660.3:c.621A>T, XM_011535660.2:c.621A>T, XM_011535660.1:c.621A>T, XM_017010648.2:c.192A>T, XM_017010648.1:c.192A>T, NM_001323005.2:c.621A>T, NM_001323005.1:c.621A>T, NR_136553.2:n.269A>T, NR_136553.1:n.449A>T, XM_047418557.1:c.513A>T, XM_047418558.1:c.192A>T, XM_047418559.1:c.57A>T, XR_007059229.1:n.647A>T

Select item 146159017612.

rs1461590176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:108323938 (GRCh38)
6:108645142 (GRCh37)
Canonical SPDI:: NC_000006.12:108323937:G:C
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108323938G>C, NC_000006.11:g.108645142G>C, NM_145315.5:c.253G>C, NM_145315.4:c.253G>C, NM_145315.3:c.253G>C, XM_005266885.4:c.154G>C, XM_005266885.3:c.154G>C, XM_005266885.2:c.154G>C, XM_005266885.1:c.154G>C, XM_011535659.4:c.253G>C, XM_011535659.3:c.253G>C, XM_011535659.2:c.253G>C, XM_011535659.1:c.253G>C, XM_011535661.3:c.253G>C, XM_011535661.2:c.253G>C, XM_011535661.1:c.253G>C, XM_011535657.3:c.253G>C, XM_011535657.2:c.253G>C, XM_011535657.1:c.253G>C, XM_011535660.3:c.253G>C, XM_011535660.2:c.253G>C, XM_011535660.1:c.253G>C, NM_001323005.2:c.253G>C, NM_001323005.1:c.253G>C, XM_047418557.1:c.145G>C, XR_007059229.1:n.279G>C, NP_660358.2:p.Ala85Pro, XP_005266942.1:p.Ala52Pro, XP_011533961.1:p.Ala85Pro, XP_011533963.1:p.Ala85Pro, XP_011533959.1:p.Ala85Pro, XP_011533962.1:p.Ala85Pro, NP_001309934.1:p.Ala85Pro, XP_047274513.1:p.Ala49Pro

Select item 146148811713.

rs1461488117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108295181 (GRCh38)
6:108616385 (GRCh37)
Canonical SPDI:: NC_000006.12:108295180:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.108295181T>C, NC_000006.11:g.108616385T>C, NM_145315.5:c.102T>C, NM_145315.4:c.102T>C, NM_145315.3:c.102T>C, XM_011535659.4:c.102T>C, XM_011535659.3:c.102T>C, XM_011535659.2:c.102T>C, XM_011535659.1:c.102T>C, XM_011535661.3:c.102T>C, XM_011535661.2:c.102T>C, XM_011535661.1:c.102T>C, XM_011535657.3:c.102T>C, XM_011535657.2:c.102T>C, XM_011535657.1:c.102T>C, XM_011535660.3:c.102T>C, XM_011535660.2:c.102T>C, XM_011535660.1:c.102T>C, NM_001323005.2:c.102T>C, NM_001323005.1:c.102T>C, NR_136553.2:n.128T>C, NR_136553.1:n.308T>C, XR_007059229.1:n.128T>C

Select item 145034007314.

rs1450340073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108356707 (GRCh38)
6:108677911 (GRCh37)
Canonical SPDI:: NC_000006.12:108356706:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.108356707C>T, NC_000006.11:g.108677911C>T, NM_145315.5:c.535C>T, NM_145315.4:c.535C>T, NM_145315.3:c.535C>T, XM_005266885.4:c.436C>T, XM_005266885.3:c.436C>T, XM_005266885.2:c.436C>T, XM_005266885.1:c.436C>T, XM_011535659.4:c.535C>T, XM_011535659.3:c.535C>T, XM_011535659.2:c.535C>T, XM_011535659.1:c.535C>T, XM_011535661.3:c.535C>T, XM_011535661.2:c.535C>T, XM_011535661.1:c.535C>T, XM_011535657.3:c.433C>T, XM_011535657.2:c.433C>T, XM_011535657.1:c.433C>T, XM_011535660.3:c.535C>T, XM_011535660.2:c.535C>T, XM_011535660.1:c.535C>T, XM_017010648.2:c.106C>T, XM_017010648.1:c.106C>T, NM_001323005.2:c.535C>T, NM_001323005.1:c.535C>T, NR_136553.2:n.183C>T, NR_136553.1:n.363C>T, XM_047418557.1:c.427C>T, XM_047418558.1:c.106C>T, XM_047418559.1:c.-30C>T, XR_007059229.1:n.561C>T, NP_660358.2:p.Gln179Ter, XP_005266942.1:p.Gln146Ter, XP_011533961.1:p.Gln179Ter, XP_011533963.1:p.Gln179Ter, XP_011533959.1:p.Gln145Ter, XP_011533962.1:p.Gln179Ter, XP_016866137.1:p.Gln36Ter, NP_001309934.1:p.Gln179Ter, XP_047274513.1:p.Gln143Ter, XP_047274514.1:p.Gln36Ter

Select item 144744933615.

rs1447449336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108323917 (GRCh38)
6:108645121 (GRCh37)
Canonical SPDI:: NC_000006.12:108323916:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108323917C>T, NC_000006.11:g.108645121C>T, NM_145315.5:c.232C>T, NM_145315.4:c.232C>T, NM_145315.3:c.232C>T, XM_005266885.4:c.133C>T, XM_005266885.3:c.133C>T, XM_005266885.2:c.133C>T, XM_005266885.1:c.133C>T, XM_011535659.4:c.232C>T, XM_011535659.3:c.232C>T, XM_011535659.2:c.232C>T, XM_011535659.1:c.232C>T, XM_011535661.3:c.232C>T, XM_011535661.2:c.232C>T, XM_011535661.1:c.232C>T, XM_011535657.3:c.232C>T, XM_011535657.2:c.232C>T, XM_011535657.1:c.232C>T, XM_011535660.3:c.232C>T, XM_011535660.2:c.232C>T, XM_011535660.1:c.232C>T, NM_001323005.2:c.232C>T, NM_001323005.1:c.232C>T, XM_047418557.1:c.124C>T, XR_007059229.1:n.258C>T, NP_660358.2:p.His78Tyr, XP_005266942.1:p.His45Tyr, XP_011533961.1:p.His78Tyr, XP_011533963.1:p.His78Tyr, XP_011533959.1:p.His78Tyr, XP_011533962.1:p.His78Tyr, NP_001309934.1:p.His78Tyr, XP_047274513.1:p.His42Tyr

Select item 144521331016.

rs1445213310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108366254 (GRCh38)
6:108687458 (GRCh37)
Canonical SPDI:: NC_000006.12:108366253:A:G
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108366254A>G, NC_000006.11:g.108687458A>G, NM_145315.5:c.670A>G, NM_145315.4:c.670A>G, NM_145315.3:c.670A>G, XM_005266885.4:c.571A>G, XM_005266885.3:c.571A>G, XM_005266885.2:c.571A>G, XM_005266885.1:c.571A>G, XM_011535659.4:c.670A>G, XM_011535659.3:c.670A>G, XM_011535659.2:c.670A>G, XM_011535659.1:c.670A>G, XM_011535661.3:c.670A>G, XM_011535661.2:c.670A>G, XM_011535661.1:c.670A>G, XM_011535657.3:c.568A>G, XM_011535657.2:c.568A>G, XM_011535657.1:c.568A>G, XM_011535660.3:c.670A>G, XM_011535660.2:c.670A>G, XM_011535660.1:c.670A>G, XM_017010648.2:c.241A>G, XM_017010648.1:c.241A>G, NM_001323005.2:c.670A>G, NM_001323005.1:c.670A>G, NR_136553.2:n.318A>G, NR_136553.1:n.498A>G, XM_047418557.1:c.562A>G, XM_047418558.1:c.241A>G, XM_047418559.1:c.106A>G, XR_007059229.1:n.696A>G, NP_660358.2:p.Met224Val, XP_005266942.1:p.Met191Val, XP_011533961.1:p.Met224Val, XP_011533963.1:p.Met224Val, XP_011533959.1:p.Met190Val, XP_011533962.1:p.Met224Val, XP_016866137.1:p.Met81Val, NP_001309934.1:p.Met224Val, XP_047274513.1:p.Met188Val, XP_047274514.1:p.Met81Val, XP_047274515.1:p.Met36Val

Select item 144021359917.

rs1440213599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108295160 (GRCh38)
6:108616364 (GRCh37)
Canonical SPDI:: NC_000006.12:108295159:G:A
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108295160G>A, NC_000006.11:g.108616364G>A, NM_145315.5:c.81G>A, NM_145315.4:c.81G>A, NM_145315.3:c.81G>A, XM_011535659.4:c.81G>A, XM_011535659.3:c.81G>A, XM_011535659.2:c.81G>A, XM_011535659.1:c.81G>A, XM_011535661.3:c.81G>A, XM_011535661.2:c.81G>A, XM_011535661.1:c.81G>A, XM_011535657.3:c.81G>A, XM_011535657.2:c.81G>A, XM_011535657.1:c.81G>A, XM_011535660.3:c.81G>A, XM_011535660.2:c.81G>A, XM_011535660.1:c.81G>A, NM_001323005.2:c.81G>A, NM_001323005.1:c.81G>A, NR_136553.2:n.107G>A, NR_136553.1:n.287G>A, XR_007059229.1:n.107G>A

Select item 143702544918.

rs1437025449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:108323826 (GRCh38)
6:108645030 (GRCh37)
Canonical SPDI:: NC_000006.12:108323825:C:G
Gene:: AFG1L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108323826C>G, NC_000006.11:g.108645030C>G, NM_145315.5:c.141C>G, NM_145315.4:c.141C>G, NM_145315.3:c.141C>G, XM_005266885.4:c.42C>G, XM_005266885.3:c.42C>G, XM_005266885.2:c.42C>G, XM_005266885.1:c.42C>G, XM_011535659.4:c.141C>G, XM_011535659.3:c.141C>G, XM_011535659.2:c.141C>G, XM_011535659.1:c.141C>G, XM_011535661.3:c.141C>G, XM_011535661.2:c.141C>G, XM_011535661.1:c.141C>G, XM_011535657.3:c.141C>G, XM_011535657.2:c.141C>G, XM_011535657.1:c.141C>G, XM_011535660.3:c.141C>G, XM_011535660.2:c.141C>G, XM_011535660.1:c.141C>G, NM_001323005.2:c.141C>G, NM_001323005.1:c.141C>G, XM_047418557.1:c.33C>G, XR_007059229.1:n.167C>G

Select item 143192837119.

rs1431928371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108356710 (GRCh38)
6:108677914 (GRCh37)
Canonical SPDI:: NC_000006.12:108356709:A:G
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.108356710A>G, NC_000006.11:g.108677914A>G, NM_145315.5:c.538A>G, NM_145315.4:c.538A>G, NM_145315.3:c.538A>G, XM_005266885.4:c.439A>G, XM_005266885.3:c.439A>G, XM_005266885.2:c.439A>G, XM_005266885.1:c.439A>G, XM_011535659.4:c.538A>G, XM_011535659.3:c.538A>G, XM_011535659.2:c.538A>G, XM_011535659.1:c.538A>G, XM_011535661.3:c.538A>G, XM_011535661.2:c.538A>G, XM_011535661.1:c.538A>G, XM_011535657.3:c.436A>G, XM_011535657.2:c.436A>G, XM_011535657.1:c.436A>G, XM_011535660.3:c.538A>G, XM_011535660.2:c.538A>G, XM_011535660.1:c.538A>G, XM_017010648.2:c.109A>G, XM_017010648.1:c.109A>G, NM_001323005.2:c.538A>G, NM_001323005.1:c.538A>G, NR_136553.2:n.186A>G, NR_136553.1:n.366A>G, XM_047418557.1:c.430A>G, XM_047418558.1:c.109A>G, XM_047418559.1:c.-27A>G, XR_007059229.1:n.564A>G, NP_660358.2:p.Ser180Gly, XP_005266942.1:p.Ser147Gly, XP_011533961.1:p.Ser180Gly, XP_011533963.1:p.Ser180Gly, XP_011533959.1:p.Ser146Gly, XP_011533962.1:p.Ser180Gly, XP_016866137.1:p.Ser37Gly, NP_001309934.1:p.Ser180Gly, XP_047274513.1:p.Ser144Gly, XP_047274514.1:p.Ser37Gly

Select item 142545639620.

rs1425456396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108323931 (GRCh38)
6:108645135 (GRCh37)
Canonical SPDI:: NC_000006.12:108323930:G:A
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.108323931G>A, NC_000006.11:g.108645135G>A, NM_145315.5:c.246G>A, NM_145315.4:c.246G>A, NM_145315.3:c.246G>A, XM_005266885.4:c.147G>A, XM_005266885.3:c.147G>A, XM_005266885.2:c.147G>A, XM_005266885.1:c.147G>A, XM_011535659.4:c.246G>A, XM_011535659.3:c.246G>A, XM_011535659.2:c.246G>A, XM_011535659.1:c.246G>A, XM_011535661.3:c.246G>A, XM_011535661.2:c.246G>A, XM_011535661.1:c.246G>A, XM_011535657.3:c.246G>A, XM_011535657.2:c.246G>A, XM_011535657.1:c.246G>A, XM_011535660.3:c.246G>A, XM_011535660.2:c.246G>A, XM_011535660.1:c.246G>A, NM_001323005.2:c.246G>A, NM_001323005.1:c.246G>A, XM_047418557.1:c.138G>A, XR_007059229.1:n.272G>A

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