Linked Data
ClinVar Variation Id:
1140777
ClinVar RCV Id:
RCV001477968
dbSNP Id:
rs2148002328
MyVariant Identifiers:
chrX:g.107938550C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695320C>T , CM000685.2:g.108695320C>T | GRCh38 |
| NC_000023.10:g.107938550C>T , CM000685.1:g.107938550C>T | GRCh37 |
| NC_000023.9:g.107825206C>T | NCBI36 |
| NG_011977.1:g.260397C>T | |
| NG_011977.2:g.260397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4875C>T MANE Select | ENSP00000331902.7:p.Ser1625= | |
| ENST00000361603.7:c.4857C>T | ENSP00000354505.2:p.Ser1619= | |
| ENST00000510690.2:n.1369C>T | ||
| ENST00000644079.1:n.1706C>T | ||
| ENST00000328300.10:c.4875C>T | ENSP00000331902.6:p.Ser1625= | |
| ENST00000361603.6:c.4857C>T | ENSP00000354505.2:p.Ser1619= | |
| ENST00000504541.1:c.219+399C>T | ENSP00000424845.1:n.219+399C>T | |
| ENST00000515658.1:c.325-977C>T | ||
| NM_000495.4:c.4857C>T | NP_000486.1:p.Ser1619= | |
| NM_033380.2:c.4875C>T | NP_203699.1:p.Ser1625= | |
| XM_005262070.2:c.4866C>T | XP_005262127.1:p.Ser1622= | |
| XM_006724616.2:c.4875C>T | XP_006724679.1:p.Ser1625= | |
| XM_011530849.1:c.4551C>T | XP_011529151.1:p.Ser1517= | |
| XM_011530851.1:c.2448C>T | XP_011529153.1:p.Ser816= | |
| XM_011530849.2:c.4890C>T | XP_011529151.2:p.Ser1630= | |
| XM_017029259.2:c.4881C>T | XP_016884748.1:p.Ser1627= | |
| XM_017029260.1:c.4872C>T | XP_016884749.1:p.Ser1624= | |
| XM_017029263.2:c.3210C>T | XP_016884752.1:p.Ser1070= | |
| NM_000495.5:c.4857C>T | NP_000486.1:p.Ser1619= | |
| NM_033380.3:c.4875C>T MANE Select | NP_203699.1:p.Ser1625= |