Linked Data
ClinVar Variation Id:
14918
ClinVar RCV Id:
RCV001800294
dbSNP Id:
rs137853248
gnomAD v2:
1-22191367-C-T
gnomAD v4:
1-21864874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864874C>T , CM000663.2:g.21864874C>T | GRCh38 |
| NC_000001.10:g.22191367C>T , CM000663.1:g.22191367C>T | GRCh37 |
| NC_000001.9:g.22063954C>T | NCBI36 |
| NG_016740.1:g.77384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4595G>A MANE Select | ENSP00000363827.3:p.Cys1532Tyr | |
| ENST00000374695.7:c.4595G>A | ENSP00000363827.3:p.Cys1532Tyr | |
| NM_001291860.1:c.4598G>A | NP_001278789.1:p.Cys1533Tyr | |
| NM_005529.6:c.4595G>A | NP_005520.4:p.Cys1532Tyr | |
| XM_006710594.2:c.5141G>A | XP_006710657.1:p.Cys1714Tyr | |
| XM_006710595.2:c.5093G>A | XP_006710658.1:p.Cys1698Tyr | |
| XM_006710596.2:c.5072G>A | XP_006710659.1:p.Cys1691Tyr | |
| XM_006710597.2:c.4595G>A | XP_006710660.1:p.Cys1532Tyr | |
| XM_011541317.1:c.5144G>A | XP_011539619.1:p.Cys1715Tyr | |
| XM_011541318.1:c.5144G>A | XP_011539620.1:p.Cys1715Tyr | |
| XM_011541319.1:c.5144G>A | XP_011539621.1:p.Cys1715Tyr | |
| XM_011541320.1:c.5144G>A | XP_011539622.1:p.Cys1715Tyr | |
| XM_011541321.1:c.4649G>A | XP_011539623.1:p.Cys1550Tyr | |
| XM_011541322.1:c.5144G>A | XP_011539624.1:p.Cys1715Tyr | |
| XM_011541318.2:c.5144G>A | XP_011539620.1:p.Cys1715Tyr | |
| XM_017001120.1:c.4790G>A | XP_016856609.1:p.Cys1597Tyr | |
| XM_017001121.1:c.4739G>A | XP_016856610.1:p.Cys1580Tyr | |
| XM_017001122.1:c.4736G>A | XP_016856611.1:p.Cys1579Tyr | |
| NM_005529.7:c.4595G>A MANE Select | NP_005520.4:p.Cys1532Tyr | |
| NM_001291860.2:c.4598G>A | NP_001278789.1:p.Cys1533Tyr |