SNP Links for Protein (Select 530399036) - SNP

Select item 14870975051.

rs1487097505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:25204234 (GRCh38)
12:25357168 (GRCh37)
Canonical SPDI:: NC_000012.12:25204233:G:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.25204234G>C, NC_000012.11:g.25357168G>C, NG_007524.2:g.51770C>G, XM_005253320.5:c.195G>C, XM_005253320.4:c.195G>C, XM_005253320.3:c.195G>C, XM_005253320.2:c.195G>C, XM_005253320.1:c.195G>C, XM_005253319.5:c.195G>C, XM_005253319.4:c.195G>C, XM_005253319.3:c.195G>C, XM_005253319.2:c.195G>C, XM_005253319.1:c.195G>C, XM_017018850.3:c.195G>C, XM_017018850.2:c.195G>C, XM_017018850.1:c.195G>C, NM_001001660.3:c.195G>C, NM_001001660.2:c.195G>C, XP_005253377.1:p.Glu65Asp, XP_005253376.1:p.Glu65Asp, XP_016874339.1:p.Glu65Asp, NP_001001660.2:p.Glu65Asp

Select item 14842833512.

rs1484283351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:25204103 (GRCh38)
12:25357037 (GRCh37)
Canonical SPDI:: NC_000012.12:25204102:G:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.25204103G>C, NC_000012.11:g.25357037G>C, NG_007524.2:g.51901C>G, XM_005253320.5:c.64G>C, XM_005253320.4:c.64G>C, XM_005253320.3:c.64G>C, XM_005253320.2:c.64G>C, XM_005253320.1:c.64G>C, XM_005253319.5:c.64G>C, XM_005253319.4:c.64G>C, XM_005253319.3:c.64G>C, XM_005253319.2:c.64G>C, XM_005253319.1:c.64G>C, XM_017018850.3:c.64G>C, XM_017018850.2:c.64G>C, XM_017018850.1:c.64G>C, NM_001001660.3:c.64G>C, NM_001001660.2:c.64G>C, XP_005253377.1:p.Gly22Arg, XP_005253376.1:p.Gly22Arg, XP_016874339.1:p.Gly22Arg, NP_001001660.2:p.Gly22Arg

Select item 14609863643.

rs1460986364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:25204197 (GRCh38)
12:25357131 (GRCh37)
Canonical SPDI:: NC_000012.12:25204196:A:C,NC_000012.12:25204196:A:G
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.25204197A>C, NC_000012.12:g.25204197A>G, NC_000012.11:g.25357131A>C, NC_000012.11:g.25357131A>G, NG_007524.2:g.51807T>G, NG_007524.2:g.51807T>C, XM_005253320.5:c.158A>C, XM_005253320.5:c.158A>G, XM_005253320.4:c.158A>C, XM_005253320.4:c.158A>G, XM_005253320.3:c.158A>C, XM_005253320.3:c.158A>G, XM_005253320.2:c.158A>C, XM_005253320.2:c.158A>G, XM_005253320.1:c.158A>C, XM_005253320.1:c.158A>G, XM_005253319.5:c.158A>C, XM_005253319.5:c.158A>G, XM_005253319.4:c.158A>C, XM_005253319.4:c.158A>G, XM_005253319.3:c.158A>C, XM_005253319.3:c.158A>G, XM_005253319.2:c.158A>C, XM_005253319.2:c.158A>G, XM_005253319.1:c.158A>C, XM_005253319.1:c.158A>G, XM_017018850.3:c.158A>C, XM_017018850.3:c.158A>G, XM_017018850.2:c.158A>C, XM_017018850.2:c.158A>G, XM_017018850.1:c.158A>C, XM_017018850.1:c.158A>G, NM_001001660.3:c.158A>C, NM_001001660.3:c.158A>G, NM_001001660.2:c.158A>C, NM_001001660.2:c.158A>G, XP_005253377.1:p.Lys53Thr, XP_005253377.1:p.Lys53Arg, XP_005253376.1:p.Lys53Thr, XP_005253376.1:p.Lys53Arg, XP_016874339.1:p.Lys53Thr, XP_016874339.1:p.Lys53Arg, NP_001001660.2:p.Lys53Thr, NP_001001660.2:p.Lys53Arg

Select item 14402855714.

rs1440285571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:25204213 (GRCh38)
12:25357147 (GRCh37)
Canonical SPDI:: NC_000012.12:25204212:G:A,NC_000012.12:25204212:G:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.00463/1 (Vietnamese)
HGVS:: NC_000012.12:g.25204213G>A, NC_000012.12:g.25204213G>C, NC_000012.11:g.25357147G>A, NC_000012.11:g.25357147G>C, NG_007524.2:g.51791C>T, NG_007524.2:g.51791C>G, XM_005253320.5:c.174G>A, XM_005253320.5:c.174G>C, XM_005253320.4:c.174G>A, XM_005253320.4:c.174G>C, XM_005253320.3:c.174G>A, XM_005253320.3:c.174G>C, XM_005253320.2:c.174G>A, XM_005253320.2:c.174G>C, XM_005253320.1:c.174G>A, XM_005253320.1:c.174G>C, XM_005253319.5:c.174G>A, XM_005253319.5:c.174G>C, XM_005253319.4:c.174G>A, XM_005253319.4:c.174G>C, XM_005253319.3:c.174G>A, XM_005253319.3:c.174G>C, XM_005253319.2:c.174G>A, XM_005253319.2:c.174G>C, XM_005253319.1:c.174G>A, XM_005253319.1:c.174G>C, XM_017018850.3:c.174G>A, XM_017018850.3:c.174G>C, XM_017018850.2:c.174G>A, XM_017018850.2:c.174G>C, XM_017018850.1:c.174G>A, XM_017018850.1:c.174G>C, NM_001001660.3:c.174G>A, NM_001001660.3:c.174G>C, NM_001001660.2:c.174G>A, NM_001001660.2:c.174G>C, XP_005253377.1:p.Gln58His, XP_005253376.1:p.Gln58His, XP_016874339.1:p.Gln58His, NP_001001660.2:p.Gln58His

Select item 14352705255.

rs1435270525 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 12:25203973 (GRCh38)
12:25356907 (GRCh37)
Canonical SPDI:: NC_000012.12:25203970:TTCTTT:TT
Gene:: ETFRF1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000035/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.25203973_25203976del, NC_000012.11:g.25356907_25356910del, NG_007524.2:g.52030_52033del, XM_005253320.5:c.17_20del, XM_005253320.4:c.17_20del, XM_005253320.3:c.17_20del, XM_005253320.2:c.17_20del, XM_005253320.1:c.17_20del, XM_005253319.5:c.17_20del, XM_005253319.4:c.17_20del, XM_005253319.3:c.17_20del, XM_005253319.2:c.17_20del, XM_005253319.1:c.17_20del, XM_017018850.3:c.17_20del, XM_017018850.2:c.17_20del, XM_017018850.1:c.17_20del, NM_001001660.3:c.17_20del, NM_001001660.2:c.17_20del, XP_005253377.1:p.Asn5_Ser6insTer, XP_005253376.1:p.Asn5_Ser6insTer, XP_016874339.1:p.Asn5_Ser6insTer, NP_001001660.2:p.Asn5_Ser6insTer

Select item 14291685806.

rs1429168580 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:25203980 (GRCh38)
12:25356914 (GRCh37)
Canonical SPDI:: NC_000012.12:25203977:AGAG:AG
Gene:: ETFRF1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000017/2 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
-=0.000043/6 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.25203978AG[1], NC_000012.11:g.25356912AG[1], NG_007524.2:g.52023CT[1], XM_005253320.5:c.24_25del, XM_005253320.4:c.24_25del, XM_005253320.3:c.24_25del, XM_005253320.2:c.24_25del, XM_005253320.1:c.24_25del, XM_005253319.5:c.24_25del, XM_005253319.4:c.24_25del, XM_005253319.3:c.24_25del, XM_005253319.2:c.24_25del, XM_005253319.1:c.24_25del, XM_017018850.3:c.24_25del, XM_017018850.2:c.24_25del, XM_017018850.1:c.24_25del, NM_001001660.3:c.24_25del, NM_001001660.2:c.24_25del, XP_005253377.1:p.Gly9fs, XP_005253376.1:p.Gly9fs, XP_016874339.1:p.Gly9fs, NP_001001660.2:p.Gly9fs

Select item 14278991397.

rs1427899139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:25203981 (GRCh38)
12:25356915 (GRCh37)
Canonical SPDI:: NC_000012.12:25203980:G:A
Gene:: ETFRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.25203981G>A, NC_000012.11:g.25356915G>A, NG_007524.2:g.52023C>T, XM_005253320.5:c.25G>A, XM_005253320.4:c.25G>A, XM_005253320.3:c.25G>A, XM_005253320.2:c.25G>A, XM_005253320.1:c.25G>A, XM_005253319.5:c.25G>A, XM_005253319.4:c.25G>A, XM_005253319.3:c.25G>A, XM_005253319.2:c.25G>A, XM_005253319.1:c.25G>A, XM_017018850.3:c.25G>A, XM_017018850.2:c.25G>A, XM_017018850.1:c.25G>A, NM_001001660.3:c.25G>A, NM_001001660.2:c.25G>A, XP_005253377.1:p.Gly9Arg, XP_005253376.1:p.Gly9Arg, XP_016874339.1:p.Gly9Arg, NP_001001660.2:p.Gly9Arg

Select item 14261153268.

rs1426115326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:25204216 (GRCh38)
12:25357150 (GRCh37)
Canonical SPDI:: NC_000012.12:25204215:C:T
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.25204216C>T, NC_000012.11:g.25357150C>T, NG_007524.2:g.51788G>A, XM_005253320.5:c.177C>T, XM_005253320.4:c.177C>T, XM_005253320.3:c.177C>T, XM_005253320.2:c.177C>T, XM_005253320.1:c.177C>T, XM_005253319.5:c.177C>T, XM_005253319.4:c.177C>T, XM_005253319.3:c.177C>T, XM_005253319.2:c.177C>T, XM_005253319.1:c.177C>T, XM_017018850.3:c.177C>T, XM_017018850.2:c.177C>T, XM_017018850.1:c.177C>T, NM_001001660.3:c.177C>T, NM_001001660.2:c.177C>T

Select item 14201044269.

rs1420104426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:25204299 (GRCh38)
12:25357233 (GRCh37)
Canonical SPDI:: NC_000012.12:25204298:A:G
Gene:: ETFRF1 (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_000012.12:g.25204299A>G, NC_000012.11:g.25357233A>G, NG_007524.2:g.51705T>C, XM_005253320.5:c.260A>G, XM_005253320.4:c.260A>G, XM_005253320.3:c.260A>G, XM_005253320.2:c.260A>G, XM_005253320.1:c.260A>G, XM_005253319.5:c.260A>G, XM_005253319.4:c.260A>G, XM_005253319.3:c.260A>G, XM_005253319.2:c.260A>G, XM_005253319.1:c.260A>G, XM_017018850.3:c.260A>G, XM_017018850.2:c.260A>G, XM_017018850.1:c.260A>G, NM_001001660.3:c.260A>G, NM_001001660.2:c.260A>G, XP_005253377.1:p.Asn87Ser, XP_005253376.1:p.Asn87Ser, XP_016874339.1:p.Asn87Ser, NP_001001660.2:p.Asn87Ser

Select item 140447383210.

rs1404473832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:25204004 (GRCh38)
12:25356938 (GRCh37)
Canonical SPDI:: NC_000012.12:25204003:A:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.25204004A>C, NC_000012.11:g.25356938A>C, NG_007524.2:g.52000T>G, XM_005253320.5:c.48A>C, XM_005253320.4:c.48A>C, XM_005253320.3:c.48A>C, XM_005253320.2:c.48A>C, XM_005253320.1:c.48A>C, XM_005253319.5:c.48A>C, XM_005253319.4:c.48A>C, XM_005253319.3:c.48A>C, XM_005253319.2:c.48A>C, XM_005253319.1:c.48A>C, XM_017018850.3:c.48A>C, XM_017018850.2:c.48A>C, XM_017018850.1:c.48A>C, NM_001001660.3:c.48A>C, NM_001001660.2:c.48A>C, XP_005253377.1:p.Lys16Asn, XP_005253376.1:p.Lys16Asn, XP_016874339.1:p.Lys16Asn, NP_001001660.2:p.Lys16Asn

Select item 140017545411.

rs1400175454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 12:25203982 (GRCh38)
12:25356917 (GRCh37)
Canonical SPDI:: NC_000012.12:25203982:AGAAG:AGAAGAAG
Gene:: ETFRF1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AGAAGAAG=0./0 (ALFA)
AGA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.25203985_25203987dup, NC_000012.11:g.25356919_25356921dup, NG_007524.2:g.52019_52021dup, XM_005253320.5:c.29_31dup, XM_005253320.4:c.29_31dup, XM_005253320.3:c.29_31dup, XM_005253320.2:c.29_31dup, XM_005253320.1:c.29_31dup, XM_005253319.5:c.29_31dup, XM_005253319.4:c.29_31dup, XM_005253319.3:c.29_31dup, XM_005253319.2:c.29_31dup, XM_005253319.1:c.29_31dup, XM_017018850.3:c.29_31dup, XM_017018850.2:c.29_31dup, XM_017018850.1:c.29_31dup, NM_001001660.3:c.29_31dup, NM_001001660.2:c.29_31dup, XP_005253377.1:p.Glu10dup, XP_005253376.1:p.Glu10dup, XP_016874339.1:p.Glu10dup, NP_001001660.2:p.Glu10dup

Select item 138943989312.

rs1389439893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:25204147 (GRCh38)
12:25357081 (GRCh37)
Canonical SPDI:: NC_000012.12:25204146:G:A
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.25204147G>A, NC_000012.11:g.25357081G>A, NG_007524.2:g.51857C>T, XM_005253320.5:c.108G>A, XM_005253320.4:c.108G>A, XM_005253320.3:c.108G>A, XM_005253320.2:c.108G>A, XM_005253320.1:c.108G>A, XM_005253319.5:c.108G>A, XM_005253319.4:c.108G>A, XM_005253319.3:c.108G>A, XM_005253319.2:c.108G>A, XM_005253319.1:c.108G>A, XM_017018850.3:c.108G>A, XM_017018850.2:c.108G>A, XM_017018850.1:c.108G>A, NM_001001660.3:c.108G>A, NM_001001660.2:c.108G>A

Select item 138606686213.

rs1386066862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:25204122 (GRCh38)
12:25357056 (GRCh37)
Canonical SPDI:: NC_000012.12:25204121:G:A
Gene:: ETFRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.25204122G>A, NC_000012.11:g.25357056G>A, NG_007524.2:g.51882C>T, XM_005253320.5:c.83G>A, XM_005253320.4:c.83G>A, XM_005253320.3:c.83G>A, XM_005253320.2:c.83G>A, XM_005253320.1:c.83G>A, XM_005253319.5:c.83G>A, XM_005253319.4:c.83G>A, XM_005253319.3:c.83G>A, XM_005253319.2:c.83G>A, XM_005253319.1:c.83G>A, XM_017018850.3:c.83G>A, XM_017018850.2:c.83G>A, XM_017018850.1:c.83G>A, NM_001001660.3:c.83G>A, NM_001001660.2:c.83G>A, XP_005253377.1:p.Gly28Glu, XP_005253376.1:p.Gly28Glu, XP_016874339.1:p.Gly28Glu, NP_001001660.2:p.Gly28Glu

Select item 138518112314.

rs1385181123 has merged into rs767921503 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>-,AGAAGA [Show Flanks]
Chromosome:: 12:25204191 (GRCh38)
12:25357125 (GRCh37)
Canonical SPDI:: NC_000012.12:25204187:AGAAGA:AGA,NC_000012.12:25204187:AGAAGA:AGAAGAAGA
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAGAAGA=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000009/1 (ExAC)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.25204188AGA[1], NC_000012.12:g.25204188AGA[3], NC_000012.11:g.25357122AGA[1], NC_000012.11:g.25357122AGA[3], NG_007524.2:g.51811TCT[1], NG_007524.2:g.51811TCT[3], XM_005253320.5:c.149AGA[1], XM_005253320.5:c.149AGA[3], XM_005253320.4:c.149AGA[1], XM_005253320.4:c.149AGA[3], XM_005253320.3:c.149AGA[1], XM_005253320.3:c.149AGA[3], XM_005253320.2:c.149AGA[1], XM_005253320.2:c.149AGA[3], XM_005253320.1:c.149AGA[1], XM_005253320.1:c.149AGA[3], XM_005253319.5:c.149AGA[1], XM_005253319.5:c.149AGA[3], XM_005253319.4:c.149AGA[1], XM_005253319.4:c.149AGA[3], XM_005253319.3:c.149AGA[1], XM_005253319.3:c.149AGA[3], XM_005253319.2:c.149AGA[1], XM_005253319.2:c.149AGA[3], XM_005253319.1:c.149AGA[1], XM_005253319.1:c.149AGA[3], XM_017018850.3:c.149AGA[1], XM_017018850.3:c.149AGA[3], XM_017018850.2:c.149AGA[1], XM_017018850.2:c.149AGA[3], XM_017018850.1:c.149AGA[1], XM_017018850.1:c.149AGA[3], NM_001001660.3:c.149AGA[1], NM_001001660.3:c.149AGA[3], NM_001001660.2:c.149AGA[1], NM_001001660.2:c.149AGA[3], XP_005253377.1:p.Lys51del, XP_005253377.1:p.Lys51dup, XP_005253376.1:p.Lys51del, XP_005253376.1:p.Lys51dup, XP_016874339.1:p.Lys51del, XP_016874339.1:p.Lys51dup, NP_001001660.2:p.Lys51del, NP_001001660.2:p.Lys51dup

Select item 137825628215.

rs1378256282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 12:25204176 (GRCh38)
12:25357111 (GRCh37)
Canonical SPDI:: NC_000012.12:25204176:GAAGAA:GAAGAAGAA
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: GAAGAAGAA=0./0 (ALFA)
GAA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.25204177GAA[3], NC_000012.11:g.25357111GAA[3], NG_007524.2:g.51822TTC[3], XM_005253320.5:c.138GAA[3], XM_005253320.4:c.138GAA[3], XM_005253320.3:c.138GAA[3], XM_005253320.2:c.138GAA[3], XM_005253320.1:c.138GAA[3], XM_005253319.5:c.138GAA[3], XM_005253319.4:c.138GAA[3], XM_005253319.3:c.138GAA[3], XM_005253319.2:c.138GAA[3], XM_005253319.1:c.138GAA[3], XM_017018850.3:c.138GAA[3], XM_017018850.2:c.138GAA[3], XM_017018850.1:c.138GAA[3], NM_001001660.3:c.138GAA[3], NM_001001660.2:c.138GAA[3], XP_005253377.1:p.Lys47dup, XP_005253376.1:p.Lys47dup, XP_016874339.1:p.Lys47dup, NP_001001660.2:p.Lys47dup

Select item 137817524616.

rs1378175246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:25204113 (GRCh38)
12:25357047 (GRCh37)
Canonical SPDI:: NC_000012.12:25204112:A:T
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.25204113A>T, NC_000012.11:g.25357047A>T, NG_007524.2:g.51891T>A, XM_005253320.5:c.74A>T, XM_005253320.4:c.74A>T, XM_005253320.3:c.74A>T, XM_005253320.2:c.74A>T, XM_005253320.1:c.74A>T, XM_005253319.5:c.74A>T, XM_005253319.4:c.74A>T, XM_005253319.3:c.74A>T, XM_005253319.2:c.74A>T, XM_005253319.1:c.74A>T, XM_017018850.3:c.74A>T, XM_017018850.2:c.74A>T, XM_017018850.1:c.74A>T, NM_001001660.3:c.74A>T, NM_001001660.2:c.74A>T, XP_005253377.1:p.Tyr25Phe, XP_005253376.1:p.Tyr25Phe, XP_016874339.1:p.Tyr25Phe, NP_001001660.2:p.Tyr25Phe

Select item 137238241917.

rs1372382419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:25204209 (GRCh38)
12:25357143 (GRCh37)
Canonical SPDI:: NC_000012.12:25204208:C:T
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.25204209C>T, NC_000012.11:g.25357143C>T, NG_007524.2:g.51795G>A, XM_005253320.5:c.170C>T, XM_005253320.4:c.170C>T, XM_005253320.3:c.170C>T, XM_005253320.2:c.170C>T, XM_005253320.1:c.170C>T, XM_005253319.5:c.170C>T, XM_005253319.4:c.170C>T, XM_005253319.3:c.170C>T, XM_005253319.2:c.170C>T, XM_005253319.1:c.170C>T, XM_017018850.3:c.170C>T, XM_017018850.2:c.170C>T, XM_017018850.1:c.170C>T, NM_001001660.3:c.170C>T, NM_001001660.2:c.170C>T, XP_005253377.1:p.Ala57Val, XP_005253376.1:p.Ala57Val, XP_016874339.1:p.Ala57Val, NP_001001660.2:p.Ala57Val

Select item 136866206018.

rs1368662060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:25204210 (GRCh38)
12:25357144 (GRCh37)
Canonical SPDI:: NC_000012.12:25204209:A:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.25204210A>C, NC_000012.11:g.25357144A>C, NG_007524.2:g.51794T>G, XM_005253320.5:c.171A>C, XM_005253320.4:c.171A>C, XM_005253320.3:c.171A>C, XM_005253320.2:c.171A>C, XM_005253320.1:c.171A>C, XM_005253319.5:c.171A>C, XM_005253319.4:c.171A>C, XM_005253319.3:c.171A>C, XM_005253319.2:c.171A>C, XM_005253319.1:c.171A>C, XM_017018850.3:c.171A>C, XM_017018850.2:c.171A>C, XM_017018850.1:c.171A>C, NM_001001660.3:c.171A>C, NM_001001660.2:c.171A>C

Select item 136466269519.

rs1364662695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:25204250 (GRCh38)
12:25357184 (GRCh37)
Canonical SPDI:: NC_000012.12:25204249:T:C
Gene:: ETFRF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.25204250T>C, NC_000012.11:g.25357184T>C, NG_007524.2:g.51754A>G, XM_005253320.5:c.211T>C, XM_005253320.4:c.211T>C, XM_005253320.3:c.211T>C, XM_005253320.2:c.211T>C, XM_005253320.1:c.211T>C, XM_005253319.5:c.211T>C, XM_005253319.4:c.211T>C, XM_005253319.3:c.211T>C, XM_005253319.2:c.211T>C, XM_005253319.1:c.211T>C, XM_017018850.3:c.211T>C, XM_017018850.2:c.211T>C, XM_017018850.1:c.211T>C, NM_001001660.3:c.211T>C, NM_001001660.2:c.211T>C, XP_005253377.1:p.Phe71Leu, XP_005253376.1:p.Phe71Leu, XP_016874339.1:p.Phe71Leu, NP_001001660.2:p.Phe71Leu

Select item 135977438320.

rs1359774383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCT [Show Flanks]
Chromosome:: 12:25204096 (GRCh38)
12:25357031 (GRCh37)
Canonical SPDI:: NC_000012.12:25204096:TATCT:TATCTATCT
Gene:: ETFRF1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATCTATCT=0./0 (ALFA)
TATC=0.000005/1 (GnomAD_exomes)
TATC=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.25204098_25204101dup, NC_000012.11:g.25357032_25357035dup, NG_007524.2:g.51904_51907dup, XM_005253320.5:c.59_62dup, XM_005253320.4:c.59_62dup, XM_005253320.3:c.59_62dup, XM_005253320.2:c.59_62dup, XM_005253320.1:c.59_62dup, XM_005253319.5:c.59_62dup, XM_005253319.4:c.59_62dup, XM_005253319.3:c.59_62dup, XM_005253319.2:c.59_62dup, XM_005253319.1:c.59_62dup, XM_017018850.3:c.59_62dup, XM_017018850.2:c.59_62dup, XM_017018850.1:c.59_62dup, NM_001001660.3:c.59_62dup, NM_001001660.2:c.59_62dup, XP_005253377.1:p.Gly22fs, XP_005253376.1:p.Gly22fs, XP_016874339.1:p.Gly22fs, NP_001001660.2:p.Gly22fs

dbSNP

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Result Filters

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Items: 1 to 20 of 103

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