Linked Data
ClinVar Variation Id:
2730642
ClinVar RCV Id:
RCV003579786
MyVariant Identifiers:
chrX:g.107938097T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694867T>A , CM000685.2:g.108694867T>A | GRCh38 |
| NC_000023.10:g.107938097T>A , CM000685.1:g.107938097T>A | GRCh37 |
| NC_000023.9:g.107824753T>A | NCBI36 |
| NG_011977.1:g.259944T>A | |
| NG_011977.2:g.259944T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4767T>A MANE Select | ENSP00000331902.7:p.Ile1589= | |
| ENST00000361603.7:c.4749T>A | ENSP00000354505.2:p.Ile1583= | |
| ENST00000510690.2:n.1261T>A | ||
| ENST00000644079.1:n.1253T>A | ||
| ENST00000328300.10:c.4767T>A | ENSP00000331902.6:p.Ile1589= | |
| ENST00000361603.6:c.4749T>A | ENSP00000354505.2:p.Ile1583= | |
| ENST00000504541.1:c.165T>A | ENSP00000424845.1:p.Ile55= | |
| ENST00000515658.1:c.325-1430T>A | ||
| NM_000495.4:c.4749T>A | NP_000486.1:p.Ile1583= | |
| NM_033380.2:c.4767T>A | NP_203699.1:p.Ile1589= | |
| XM_005262070.2:c.4758T>A | XP_005262127.1:p.Ile1586= | |
| XM_006724616.2:c.4767T>A | XP_006724679.1:p.Ile1589= | |
| XM_011530849.1:c.4443T>A | XP_011529151.1:p.Ile1481= | |
| XM_011530851.1:c.2340T>A | XP_011529153.1:p.Ile780= | |
| XM_011530849.2:c.4782T>A | XP_011529151.2:p.Ile1594= | |
| XM_017029259.2:c.4773T>A | XP_016884748.1:p.Ile1591= | |
| XM_017029260.1:c.4764T>A | XP_016884749.1:p.Ile1588= | |
| XM_017029263.2:c.3102T>A | XP_016884752.1:p.Ile1034= | |
| NM_000495.5:c.4749T>A | NP_000486.1:p.Ile1583= | |
| NM_033380.3:c.4767T>A MANE Select | NP_203699.1:p.Ile1589= |