Linked Data
dbSNP Id:
rs781505411
ExAC:
X:107938062 G / A
gnomAD v2:
X-107938062-G-A
gnomAD v3:
X-108694832-G-A
gnomAD v4:
X-108694832-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694832G>A , CM000685.2:g.108694832G>A | GRCh38 |
| NC_000023.10:g.107938062G>A , CM000685.1:g.107938062G>A | GRCh37 |
| NC_000023.9:g.107824718G>A | NCBI36 |
| NG_011977.1:g.259909G>A | |
| NG_011977.2:g.259909G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4732G>A MANE Select | ENSP00000331902.7:p.Val1578Met | |
| ENST00000361603.7:c.4714G>A | ENSP00000354505.2:p.Val1572Met | |
| ENST00000510690.2:n.1226G>A | ||
| ENST00000644079.1:n.1218G>A | ||
| ENST00000328300.10:c.4732G>A | ENSP00000331902.6:p.Val1578Met | |
| ENST00000361603.6:c.4714G>A | ENSP00000354505.2:p.Val1572Met | |
| ENST00000504541.1:c.130G>A | ENSP00000424845.1:p.Val44Met | |
| ENST00000515658.1:c.325-1465G>A | ||
| NM_000495.4:c.4714G>A | NP_000486.1:p.Val1572Met | |
| NM_033380.2:c.4732G>A | NP_203699.1:p.Val1578Met | |
| XM_005262070.2:c.4723G>A | XP_005262127.1:p.Val1575Met | |
| XM_006724616.2:c.4732G>A | XP_006724679.1:p.Val1578Met | |
| XM_011530849.1:c.4408G>A | XP_011529151.1:p.Val1470Met | |
| XM_011530851.1:c.2305G>A | XP_011529153.1:p.Val769Met | |
| XM_011530849.2:c.4747G>A | XP_011529151.2:p.Val1583Met | |
| XM_017029259.2:c.4738G>A | XP_016884748.1:p.Val1580Met | |
| XM_017029260.1:c.4729G>A | XP_016884749.1:p.Val1577Met | |
| XM_017029263.2:c.3067G>A | XP_016884752.1:p.Val1023Met | |
| NM_000495.5:c.4714G>A | NP_000486.1:p.Val1572Met | |
| NM_033380.3:c.4732G>A MANE Select | NP_203699.1:p.Val1578Met |