Linked Data
ClinVar Variation Id:
1617226
ClinVar RCV Id:
RCV002076445
dbSNP Id:
rs2148002365
MyVariant Identifiers:
chrX:g.107938571A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695341A>G , CM000685.2:g.108695341A>G | GRCh38 |
| NC_000023.10:g.107938571A>G , CM000685.1:g.107938571A>G | GRCh37 |
| NC_000023.9:g.107825227A>G | NCBI36 |
| NG_011977.1:g.260418A>G | |
| NG_011977.2:g.260418A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.4896A>G MANE Select | ENSP00000331902.7:p.Ser1632= | |
| ENST00000361603.7:c.4878A>G | ENSP00000354505.2:p.Ser1626= | |
| ENST00000510690.2:n.1390A>G | ||
| ENST00000644079.1:n.1727A>G | ||
| ENST00000328300.10:c.4896A>G | ENSP00000331902.6:p.Ser1632= | |
| ENST00000361603.6:c.4878A>G | ENSP00000354505.2:p.Ser1626= | |
| ENST00000504541.1:c.219+420A>G | ENSP00000424845.1:n.219+420A>G | |
| ENST00000515658.1:c.325-956A>G | ||
| NM_000495.4:c.4878A>G | NP_000486.1:p.Ser1626= | |
| NM_033380.2:c.4896A>G | NP_203699.1:p.Ser1632= | |
| XM_005262070.2:c.4887A>G | XP_005262127.1:p.Ser1629= | |
| XM_006724616.2:c.4896A>G | XP_006724679.1:p.Ser1632= | |
| XM_011530849.1:c.4572A>G | XP_011529151.1:p.Ser1524= | |
| XM_011530851.1:c.2469A>G | XP_011529153.1:p.Ser823= | |
| XM_011530849.2:c.4911A>G | XP_011529151.2:p.Ser1637= | |
| XM_017029259.2:c.4902A>G | XP_016884748.1:p.Ser1634= | |
| XM_017029260.1:c.4893A>G | XP_016884749.1:p.Ser1631= | |
| XM_017029263.2:c.3231A>G | XP_016884752.1:p.Ser1077= | |
| NM_000495.5:c.4878A>G | NP_000486.1:p.Ser1626= | |
| NM_033380.3:c.4896A>G MANE Select | NP_203699.1:p.Ser1632= |