Linked Data
ClinVar Variation Id:
1933939
ClinVar RCV Id:
RCV002627335
dbSNP Id:
rs747130172
ExAC:
1:92944223 G / A
gnomAD v2:
1-92944223-G-A
gnomAD v4:
1-92478666-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92478666G>A , CM000663.2:g.92478666G>A | GRCh38 |
| NC_000001.10:g.92944223G>A , CM000663.1:g.92944223G>A | GRCh37 |
| NC_000001.9:g.92716811G>A | NCBI36 |
| NG_007874.1:g.13211C>T , LRG_63:g.13211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427103.6:c.1012C>T | ENSP00000399719.1:p.Arg338Trp | |
| ENST00000696667.1:c.138+1682C>T | ENSP00000512792.1:n.138+1682C>T | |
| ENST00000294702.6:c.1012C>T MANE Select | ENSP00000294702.5:p.Arg338Trp | |
| ENST00000294702.5:c.1012C>T | ENSP00000294702.5:p.Arg338Trp | |
| ENST00000370332.5:c.1012C>T | ENSP00000359357.1:p.Arg338Trp | |
| ENST00000427103.5:c.1012C>T | ENSP00000399719.1:p.Arg338Trp | |
| NM_001127215.1:c.1012C>T | NP_001120687.1:p.Arg338Trp | |
| NM_001127216.1:c.1012C>T | NP_001120688.1:p.Arg338Trp | |
| NM_005263.3:c.1012C>T , LRG_63t1:c.1012C>T | NP_005254.2:p.Arg338Trp | |
| XM_005270749.3:c.1012C>T | XP_005270806.1:p.Arg338Trp | |
| XM_011541245.1:c.1012C>T | XP_011539547.1:p.Arg338Trp | |
| XM_011541246.1:c.1012C>T | XP_011539548.1:p.Arg338Trp | |
| NM_001127215.2:c.1012C>T | NP_001120687.1:p.Arg338Trp | |
| NM_001127216.2:c.1012C>T | NP_001120688.1:p.Arg338Trp | |
| NM_005263.4:c.1012C>T | NP_005254.2:p.Arg338Trp | |
| XM_011541245.2:c.1012C>T | XP_011539547.1:p.Arg338Trp | |
| XM_011541246.2:c.1012C>T | XP_011539548.1:p.Arg338Trp | |
| NM_005263.5:c.1012C>T MANE Select | NP_005254.2:p.Arg338Trp | |
| NM_001127215.3:c.1012C>T | NP_001120687.1:p.Arg338Trp | |
| NM_001127216.3:c.1012C>T | NP_001120688.1:p.Arg338Trp |