Linked Data
ClinVar Variation Id:
1330806
dbSNP Id:
rs937985430
gnomAD v2:
X-107938612-A-G
gnomAD v4:
X-108695382-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695382A>G , CM000685.2:g.108695382A>G | GRCh38 |
| NC_000023.10:g.107938612A>G , CM000685.1:g.107938612A>G | GRCh37 |
| NC_000023.9:g.107825268A>G | NCBI36 |
| NG_011977.1:g.260459A>G | |
| NG_011977.2:g.260459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4937A>G MANE Select | ENSP00000331902.7:p.Tyr1646Cys | |
| ENST00000361603.7:c.4919A>G | ENSP00000354505.2:p.Tyr1640Cys | |
| ENST00000510690.2:n.1431A>G | ||
| ENST00000644079.1:n.1768A>G | ||
| ENST00000328300.10:c.4937A>G | ENSP00000331902.6:p.Tyr1646Cys | |
| ENST00000361603.6:c.4919A>G | ENSP00000354505.2:p.Tyr1640Cys | |
| ENST00000504541.1:c.219+461A>G | ENSP00000424845.1:n.219+461A>G | |
| ENST00000515658.1:c.325-915A>G | ||
| NM_000495.4:c.4919A>G | NP_000486.1:p.Tyr1640Cys | |
| NM_033380.2:c.4937A>G | NP_203699.1:p.Tyr1646Cys | |
| XM_005262070.2:c.4928A>G | XP_005262127.1:p.Tyr1643Cys | |
| XM_006724616.2:c.4937A>G | XP_006724679.1:p.Tyr1646Cys | |
| XM_011530849.1:c.4613A>G | XP_011529151.1:p.Tyr1538Cys | |
| XM_011530851.1:c.2510A>G | XP_011529153.1:p.Tyr837Cys | |
| XM_011530849.2:c.4952A>G | XP_011529151.2:p.Tyr1651Cys | |
| XM_017029259.2:c.4943A>G | XP_016884748.1:p.Tyr1648Cys | |
| XM_017029260.1:c.4934A>G | XP_016884749.1:p.Tyr1645Cys | |
| XM_017029263.2:c.3272A>G | XP_016884752.1:p.Tyr1091Cys | |
| NM_000495.5:c.4919A>G | NP_000486.1:p.Tyr1640Cys | |
| NM_033380.3:c.4937A>G MANE Select | NP_203699.1:p.Tyr1646Cys |