Linked Data
ClinVar Variation Id:
12704
dbSNP Id:
rs121912649
gnomAD v2:
8-133980042-G-A
gnomAD v4:
8-132967797-G-A
PubMed:
PMID:16477365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132967797G>A , CM000670.2:g.132967797G>A | GRCh38 |
| NC_000008.10:g.133980042G>A , CM000670.1:g.133980042G>A | GRCh37 |
| NC_000008.9:g.134049224G>A | NCBI36 |
| NG_015832.1:g.105838G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220616.9:c.5690G>A MANE Select | ENSP00000220616.4:p.Cys1897Tyr | |
| ENST00000220616.8:c.5690G>A | ENSP00000220616.4:p.Cys1897Tyr | |
| ENST00000518058.1:c.85G>A | ||
| ENST00000519178.5:c.1056G>A | ||
| ENST00000519543.5:c.152G>A | ENSP00000430430.1:p.Cys51Tyr | |
| ENST00000523756.5:c.2345G>A | ||
| NM_003235.4:c.5690G>A | NP_003226.4:p.Cys1897Tyr | |
| XM_005251038.3:c.5498G>A | XP_005251095.1:p.Cys1833Tyr | |
| XM_005251040.3:c.5690G>A | XP_005251097.1:p.Cys1897Tyr | |
| XM_005251042.3:c.5690G>A | XP_005251099.1:p.Cys1897Tyr | |
| XM_005251043.3:c.5690G>A | XP_005251100.1:p.Cys1897Tyr | |
| XM_006716622.2:c.5690G>A | XP_006716685.1:p.Cys1897Tyr | |
| XM_005251038.4:c.5498G>A | XP_005251095.1:p.Cys1833Tyr | |
| XM_005251040.4:c.5690G>A | XP_005251097.1:p.Cys1897Tyr | |
| XM_005251042.4:c.5690G>A | XP_005251099.1:p.Cys1897Tyr | |
| XM_006716622.3:c.5690G>A | XP_006716685.1:p.Cys1897Tyr | |
| XM_017013793.1:c.5624G>A | XP_016869282.1:p.Cys1875Tyr | |
| XM_017013794.1:c.5690G>A | XP_016869283.1:p.Cys1897Tyr | |
| XM_017013795.1:c.5519G>A | XP_016869284.1:p.Cys1840Tyr | |
| XM_017013796.1:c.5471G>A | XP_016869285.1:p.Cys1824Tyr | |
| XM_017013797.1:c.5429G>A | XP_016869286.1:p.Cys1810Tyr | |
| XM_017013798.1:c.5690G>A | XP_016869287.1:p.Cys1897Tyr | |
| XM_017013799.1:c.5690G>A | XP_016869288.1:p.Cys1897Tyr | |
| XM_017013800.1:c.5690G>A | XP_016869289.1:p.Cys1897Tyr | |
| NM_003235.5:c.5690G>A MANE Select | NP_003226.4:p.Cys1897Tyr |