Linked Data
dbSNP Id:
rs945452840
gnomAD v2:
X-107937876-C-G
gnomAD v3:
X-108694646-C-G
gnomAD v4:
X-108694646-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694646C>G , CM000685.2:g.108694646C>G | GRCh38 |
| NC_000023.10:g.107937876C>G , CM000685.1:g.107937876C>G | GRCh37 |
| NC_000023.9:g.107824532C>G | NCBI36 |
| NG_011977.1:g.259723C>G | |
| NG_011977.2:g.259723C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4707-161C>G MANE Select | ENSP00000331902.7:n.4707-161C>G | |
| ENST00000361603.7:c.4689-161C>G | ENSP00000354505.2:n.4689-161C>G | |
| ENST00000510690.2:n.1201-161C>G | ||
| ENST00000644079.1:n.1032C>G | ||
| ENST00000328300.10:c.4707-161C>G | ENSP00000331902.6:n.4707-161C>G | |
| ENST00000361603.6:c.4689-161C>G | ENSP00000354505.2:n.4689-161C>G | |
| ENST00000504541.1:c.105-161C>G | ENSP00000424845.1:n.105-161C>G | |
| ENST00000515658.1:c.325-1651C>G | ||
| NM_000495.4:c.4689-161C>G | NP_000486.1:n.4689-161C>G | |
| NM_033380.2:c.4707-161C>G | NP_203699.1:n.4707-161C>G | |
| XM_005262070.2:c.4698-161C>G | XP_005262127.1:n.4698-161C>G | |
| XM_006724616.2:c.4707-161C>G | XP_006724679.1:n.4707-161C>G | |
| XM_011530849.1:c.4383-161C>G | XP_011529151.1:n.4383-161C>G | |
| XM_011530851.1:c.2280-161C>G | XP_011529153.1:n.2280-161C>G | |
| XM_011530849.2:c.4722-161C>G | XP_011529151.2:n.4722-161C>G | |
| XM_017029259.2:c.4713-161C>G | XP_016884748.1:n.4713-161C>G | |
| XM_017029260.1:c.4704-161C>G | XP_016884749.1:n.4704-161C>G | |
| XM_017029263.2:c.3042-161C>G | XP_016884752.1:n.3042-161C>G | |
| NM_000495.5:c.4689-161C>G | NP_000486.1:n.4689-161C>G | |
| NM_033380.3:c.4707-161C>G MANE Select | NP_203699.1:n.4707-161C>G |