Linked Data
dbSNP Id:
rs773308281
ExAC:
X:107938123 C / A
gnomAD v2:
X-107938123-C-A
gnomAD v4:
X-108694893-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694893C>A , CM000685.2:g.108694893C>A | GRCh38 |
| NC_000023.10:g.107938123C>A , CM000685.1:g.107938123C>A | GRCh37 |
| NC_000023.9:g.107824779C>A | NCBI36 |
| NG_011977.1:g.259970C>A | |
| NG_011977.2:g.259970C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4793C>A MANE Select | ENSP00000331902.7:p.Ser1598Tyr | |
| ENST00000361603.7:c.4775C>A | ENSP00000354505.2:p.Ser1592Tyr | |
| ENST00000510690.2:n.1287C>A | ||
| ENST00000644079.1:n.1279C>A | ||
| ENST00000328300.10:c.4793C>A | ENSP00000331902.6:p.Ser1598Tyr | |
| ENST00000361603.6:c.4775C>A | ENSP00000354505.2:p.Ser1592Tyr | |
| ENST00000504541.1:c.191C>A | ENSP00000424845.1:p.Ser64Tyr | |
| ENST00000515658.1:c.325-1404C>A | ||
| NM_000495.4:c.4775C>A | NP_000486.1:p.Ser1592Tyr | |
| NM_033380.2:c.4793C>A | NP_203699.1:p.Ser1598Tyr | |
| XM_005262070.2:c.4784C>A | XP_005262127.1:p.Ser1595Tyr | |
| XM_006724616.2:c.4793C>A | XP_006724679.1:p.Ser1598Tyr | |
| XM_011530849.1:c.4469C>A | XP_011529151.1:p.Ser1490Tyr | |
| XM_011530851.1:c.2366C>A | XP_011529153.1:p.Ser789Tyr | |
| XM_011530849.2:c.4808C>A | XP_011529151.2:p.Ser1603Tyr | |
| XM_017029259.2:c.4799C>A | XP_016884748.1:p.Ser1600Tyr | |
| XM_017029260.1:c.4790C>A | XP_016884749.1:p.Ser1597Tyr | |
| XM_017029263.2:c.3128C>A | XP_016884752.1:p.Ser1043Tyr | |
| NM_000495.5:c.4775C>A | NP_000486.1:p.Ser1592Tyr | |
| NM_033380.3:c.4793C>A MANE Select | NP_203699.1:p.Ser1598Tyr |