Linked Data
ClinVar Variation Id:
941197
ClinVar RCV Id:
RCV001210933
dbSNP Id:
rs1159950184
gnomAD v2:
X-128957780-C-T
gnomAD v4:
X-129823804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129823804C>T , CM000685.2:g.129823804C>T | GRCh38 |
| NC_000023.10:g.128957780C>T , CM000685.1:g.128957780C>T | GRCh37 |
| NC_000023.9:g.128785461C>T | NCBI36 |
| NG_021387.1:g.25131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357166.11:c.362G>A MANE Select | ENSP00000349689.6:p.Arg121Gln | |
| ENST00000357166.10:c.362G>A | ENSP00000349689.6:p.Arg121Gln | |
| ENST00000371064.7:c.362G>A | ENSP00000360103.3:p.Arg121Gln | |
| ENST00000406492.2:c.362G>A | ENSP00000383991.2:p.Arg121Gln | |
| ENST00000433917.5:c.241G>A | ||
| NM_001008222.2:c.362G>A | NP_001008223.1:p.Arg121Gln | |
| NM_016032.3:c.362G>A | NP_057116.2:p.Arg121Gln | |
| XM_011531347.1:c.362G>A | XP_011529649.1:p.Arg121Gln | |
| XM_011531348.1:c.362G>A | XP_011529650.1:p.Arg121Gln | |
| XM_011531348.3:c.362G>A | XP_011529650.1:p.Arg121Gln | |
| XR_001755694.2:n.756G>A | ||
| NM_016032.4:c.362G>A MANE Select | NP_057116.2:p.Arg121Gln | |
| NM_001008222.3:c.362G>A | NP_001008223.1:p.Arg121Gln |