Linked Data
ClinVar Variation Id:
1754413
ClinVar RCV Id:
RCV002375832
dbSNP Id:
rs121908324
gnomAD v2:
1-25870254-G-C
gnomAD v3:
1-25543763-G-C
gnomAD v4:
1-25543763-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25543763G>C , CM000663.2:g.25543763G>C | GRCh38 |
| NC_000001.10:g.25870254G>C , CM000663.1:g.25870254G>C | GRCh37 |
| NC_000001.9:g.25742841G>C | NCBI36 |
| NG_008932.1:g.5179G>C , LRG_276:g.5179G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374338.5:c.65G>C MANE Select | ENSP00000363458.4:p.Trp22Ser | |
| ENST00000374338.4:c.65G>C | ENSP00000363458.4:p.Trp22Ser | |
| NM_015627.2:c.65G>C , LRG_276t1:c.65G>C | NP_056442.2:p.Trp22Ser | |
| XM_006710559.2:c.65G>C | XP_006710622.1:p.Trp22Ser | |
| XM_006710560.2:c.65G>C | XP_006710623.1:p.Trp22Ser | |
| XM_006710561.2:c.65G>C | XP_006710624.1:p.Trp22Ser | |
| XM_011541209.1:c.65G>C | XP_011539511.1:p.Trp22Ser | |
| XM_011541210.1:c.65G>C | XP_011539512.1:p.Trp22Ser | |
| XM_011541211.1:c.65G>C | XP_011539513.1:p.Trp22Ser | |
| XM_011541212.1:c.65G>C | XP_011539514.1:p.Trp22Ser | |
| XR_426598.2:n.184G>C | ||
| XR_946602.1:n.184G>C | ||
| XR_946603.1:n.184G>C | ||
| XM_006710559.4:c.65G>C | XP_006710622.1:p.Trp22Ser | |
| XM_006710560.4:c.65G>C | XP_006710623.1:p.Trp22Ser | |
| XM_006710561.4:c.65G>C | XP_006710624.1:p.Trp22Ser | |
| XM_011541209.3:c.65G>C | XP_011539511.1:p.Trp22Ser | |
| XM_011541210.3:c.65G>C | XP_011539512.1:p.Trp22Ser | |
| XM_011541211.3:c.65G>C | XP_011539513.1:p.Trp22Ser | |
| XM_011541212.3:c.65G>C | XP_011539514.1:p.Trp22Ser | |
| XM_017000995.2:c.65G>C | XP_016856484.1:p.Trp22Ser | |
| XR_001737112.2:n.135G>C | ||
| XR_001737113.2:n.135G>C | ||
| XR_002956258.1:n.135G>C | ||
| XR_426598.4:n.135G>C | ||
| XR_946602.3:n.135G>C | ||
| XR_946603.3:n.135G>C | ||
| NM_015627.3:c.65G>C MANE Select | NP_056442.2:p.Trp22Ser |