Linked Data
ClinVar Variation Id:
1168044
ClinVar RCV Id:
RCV001517949
dbSNP Id:
rs572921687
ExAC:
X:107938537 C / T
gnomAD v2:
X-107938537-C-T
gnomAD v3:
X-108695307-C-T
gnomAD v4:
X-108695307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695307C>T , CM000685.2:g.108695307C>T | GRCh38 |
| NC_000023.10:g.107938537C>T , CM000685.1:g.107938537C>T | GRCh37 |
| NC_000023.9:g.107825193C>T | NCBI36 |
| NG_011977.1:g.260384C>T | |
| NG_011977.2:g.260384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4862C>T MANE Select | ENSP00000331902.7:p.Ala1621Val | |
| ENST00000361603.7:c.4844C>T | ENSP00000354505.2:p.Ala1615Val | |
| ENST00000510690.2:n.1356C>T | ||
| ENST00000644079.1:n.1693C>T | ||
| ENST00000328300.10:c.4862C>T | ENSP00000331902.6:p.Ala1621Val | |
| ENST00000361603.6:c.4844C>T | ENSP00000354505.2:p.Ala1615Val | |
| ENST00000504541.1:c.219+386C>T | ENSP00000424845.1:n.219+386C>T | |
| ENST00000515658.1:c.325-990C>T | ||
| NM_000495.4:c.4844C>T | NP_000486.1:p.Ala1615Val | |
| NM_033380.2:c.4862C>T | NP_203699.1:p.Ala1621Val | |
| XM_005262070.2:c.4853C>T | XP_005262127.1:p.Ala1618Val | |
| XM_006724616.2:c.4862C>T | XP_006724679.1:p.Ala1621Val | |
| XM_011530849.1:c.4538C>T | XP_011529151.1:p.Ala1513Val | |
| XM_011530851.1:c.2435C>T | XP_011529153.1:p.Ala812Val | |
| XM_011530849.2:c.4877C>T | XP_011529151.2:p.Ala1626Val | |
| XM_017029259.2:c.4868C>T | XP_016884748.1:p.Ala1623Val | |
| XM_017029260.1:c.4859C>T | XP_016884749.1:p.Ala1620Val | |
| XM_017029263.2:c.3197C>T | XP_016884752.1:p.Ala1066Val | |
| NM_000495.5:c.4844C>T | NP_000486.1:p.Ala1615Val | |
| NM_033380.3:c.4862C>T MANE Select | NP_203699.1:p.Ala1621Val |