Linked Data
ClinVar Variation Id:
2715701
ClinVar RCV Id:
RCV003545854
dbSNP Id:
rs1468537418
gnomAD v2:
X-107939569-A-C
gnomAD v3:
X-108696339-A-C
gnomAD v4:
X-108696339-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108696339A>C , CM000685.2:g.108696339A>C | GRCh38 |
| NC_000023.10:g.107939569A>C , CM000685.1:g.107939569A>C | GRCh37 |
| NC_000023.9:g.107826225A>C | NCBI36 |
| NG_011977.1:g.261416A>C | |
| NG_011977.2:g.261416A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.5037A>C MANE Select | ENSP00000331902.7:p.Thr1679= | |
| ENST00000361603.7:c.5019A>C | ENSP00000354505.2:p.Thr1673= | |
| ENST00000510690.2:n.1531A>C | ||
| ENST00000644079.1:n.2725A>C | ||
| ENST00000328300.10:c.5037A>C | ENSP00000331902.6:p.Thr1679= | |
| ENST00000361603.6:c.5019A>C | ENSP00000354505.2:p.Thr1673= | |
| ENST00000504541.1:c.262A>C | ENSP00000424845.1:n.262A>C | |
| ENST00000515658.1:c.367A>C | ||
| NM_000495.4:c.5019A>C | NP_000486.1:p.Thr1673= | |
| NM_033380.2:c.5037A>C | NP_203699.1:p.Thr1679= | |
| XM_005262070.2:c.5028A>C | XP_005262127.1:p.Thr1676= | |
| XM_006724616.2:c.5037A>C | XP_006724679.1:p.Thr1679= | |
| XM_011530849.1:c.4713A>C | XP_011529151.1:p.Thr1571= | |
| XM_011530851.1:c.2610A>C | XP_011529153.1:p.Thr870= | |
| XM_011530849.2:c.5052A>C | XP_011529151.2:p.Thr1684= | |
| XM_017029259.2:c.5043A>C | XP_016884748.1:p.Thr1681= | |
| XM_017029260.1:c.5034A>C | XP_016884749.1:p.Thr1678= | |
| XM_017029263.2:c.3372A>C | XP_016884752.1:p.Thr1124= | |
| NM_000495.5:c.5019A>C | NP_000486.1:p.Thr1673= | |
| NM_033380.3:c.5037A>C MANE Select | NP_203699.1:p.Thr1679= |