Linked Data
ClinVar Variation Id:
463967
ClinVar RCV Id:
RCV000554631
dbSNP Id:
rs774388890
ExAC:
11:68571506 G / A
gnomAD v2:
11-68571506-G-A
gnomAD v3:
11-68804038-G-A
gnomAD v4:
11-68804038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68804038G>A , CM000673.2:g.68804038G>A | GRCh38 |
| NC_000011.9:g.68571506G>A , CM000673.1:g.68571506G>A | GRCh37 |
| NC_000011.8:g.68328082G>A | NCBI36 |
| NG_011801.1:g.42894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.517C>T MANE Select | ENSP00000265641.4:p.Arg173Cys | |
| ENST00000265641.9:c.517C>T | ENSP00000265641.4:p.Arg173Cys | |
| ENST00000376618.6:c.517C>T | ENSP00000365803.2:p.Arg173Cys | |
| ENST00000539743.5:c.517C>T | ENSP00000446108.1:p.Arg173Cys | |
| ENST00000540367.5:c.517C>T | ENSP00000439084.1:p.Arg173Cys | |
| NM_001031847.2:c.517C>T | NP_001027017.1:p.Arg173Cys | |
| NM_001876.3:c.517C>T | NP_001867.2:p.Arg173Cys | |
| XM_005273762.1:c.613C>T | XP_005273819.1:p.Arg205Cys | |
| XM_005273763.1:c.613C>T | XP_005273820.1:p.Arg205Cys | |
| XM_005273762.3:c.613C>T | XP_005273819.1:p.Arg205Cys | |
| XM_017017220.1:c.517C>T | XP_016872709.1:p.Arg173Cys | |
| NM_001876.4:c.517C>T MANE Select | NP_001867.2:p.Arg173Cys | |
| NM_001031847.3:c.517C>T | NP_001027017.1:p.Arg173Cys |