Linked Data
ClinVar Variation Id:
2795605
ClinVar RCV Id:
RCV003675533
dbSNP Id:
rs2068714495
MyVariant Identifiers:
chrX:g.107938520C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695290C>T , CM000685.2:g.108695290C>T | GRCh38 |
| NC_000023.10:g.107938520C>T , CM000685.1:g.107938520C>T | GRCh37 |
| NC_000023.9:g.107825176C>T | NCBI36 |
| NG_011977.1:g.260367C>T | |
| NG_011977.2:g.260367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4845C>T MANE Select | ENSP00000331902.7:p.Gly1615= | |
| ENST00000361603.7:c.4827C>T | ENSP00000354505.2:p.Gly1609= | |
| ENST00000510690.2:n.1339C>T | ||
| ENST00000644079.1:n.1676C>T | ||
| ENST00000328300.10:c.4845C>T | ENSP00000331902.6:p.Gly1615= | |
| ENST00000361603.6:c.4827C>T | ENSP00000354505.2:p.Gly1609= | |
| ENST00000504541.1:c.219+369C>T | ENSP00000424845.1:n.219+369C>T | |
| ENST00000515658.1:c.325-1007C>T | ||
| NM_000495.4:c.4827C>T | NP_000486.1:p.Gly1609= | |
| NM_033380.2:c.4845C>T | NP_203699.1:p.Gly1615= | |
| XM_005262070.2:c.4836C>T | XP_005262127.1:p.Gly1612= | |
| XM_006724616.2:c.4845C>T | XP_006724679.1:p.Gly1615= | |
| XM_011530849.1:c.4521C>T | XP_011529151.1:p.Gly1507= | |
| XM_011530851.1:c.2418C>T | XP_011529153.1:p.Gly806= | |
| XM_011530849.2:c.4860C>T | XP_011529151.2:p.Gly1620= | |
| XM_017029259.2:c.4851C>T | XP_016884748.1:p.Gly1617= | |
| XM_017029260.1:c.4842C>T | XP_016884749.1:p.Gly1614= | |
| XM_017029263.2:c.3180C>T | XP_016884752.1:p.Gly1060= | |
| NM_000495.5:c.4827C>T | NP_000486.1:p.Gly1609= | |
| NM_033380.3:c.4845C>T MANE Select | NP_203699.1:p.Gly1615= |