Linked Data
dbSNP Id:
rs758974441
ExAC:
X:107938565 T / C
gnomAD v2:
X-107938565-T-C
gnomAD v4:
X-108695335-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695335T>C , CM000685.2:g.108695335T>C | GRCh38 |
| NC_000023.10:g.107938565T>C , CM000685.1:g.107938565T>C | GRCh37 |
| NC_000023.9:g.107825221T>C | NCBI36 |
| NG_011977.1:g.260412T>C | |
| NG_011977.2:g.260412T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4890T>C MANE Select | ENSP00000331902.7:p.Phe1630= | |
| ENST00000361603.7:c.4872T>C | ENSP00000354505.2:p.Phe1624= | |
| ENST00000510690.2:n.1384T>C | ||
| ENST00000644079.1:n.1721T>C | ||
| ENST00000328300.10:c.4890T>C | ENSP00000331902.6:p.Phe1630= | |
| ENST00000361603.6:c.4872T>C | ENSP00000354505.2:p.Phe1624= | |
| ENST00000504541.1:c.219+414T>C | ENSP00000424845.1:n.219+414T>C | |
| ENST00000515658.1:c.325-962T>C | ||
| NM_000495.4:c.4872T>C | NP_000486.1:p.Phe1624= | |
| NM_033380.2:c.4890T>C | NP_203699.1:p.Phe1630= | |
| XM_005262070.2:c.4881T>C | XP_005262127.1:p.Phe1627= | |
| XM_006724616.2:c.4890T>C | XP_006724679.1:p.Phe1630= | |
| XM_011530849.1:c.4566T>C | XP_011529151.1:p.Phe1522= | |
| XM_011530851.1:c.2463T>C | XP_011529153.1:p.Phe821= | |
| XM_011530849.2:c.4905T>C | XP_011529151.2:p.Phe1635= | |
| XM_017029259.2:c.4896T>C | XP_016884748.1:p.Phe1632= | |
| XM_017029260.1:c.4887T>C | XP_016884749.1:p.Phe1629= | |
| XM_017029263.2:c.3225T>C | XP_016884752.1:p.Phe1075= | |
| NM_000495.5:c.4872T>C | NP_000486.1:p.Phe1624= | |
| NM_033380.3:c.4890T>C MANE Select | NP_203699.1:p.Phe1630= |