Linked Data
ClinVar Variation Id:
597714
dbSNP Id:
rs1267154320
gnomAD v3:
15-98707785-C-T
gnomAD v4:
15-98707785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98707785C>T , CM000677.2:g.98707785C>T | GRCh38 |
| NC_000015.9:g.99251014C>T , CM000677.1:g.99251014C>T | GRCh37 |
| NC_000015.8:g.97068537C>T | NCBI36 |
| NG_009492.1:g.63254C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649865.1:c.318C>T | ENSP00000496919.1:p.Ile106= | |
| ENST00000650285.1:c.318C>T MANE Select | ENSP00000497069.1:p.Ile106= | |
| ENST00000268035.10:c.318C>T | ENSP00000268035.6:p.Ile106= | |
| ENST00000558762.5:c.318C>T | ENSP00000453007.1:p.Ile106= | |
| ENST00000559925.5:n.318C>T | ||
| NM_000875.4:c.318C>T | NP_000866.1:p.Ile106= | |
| NM_001291858.1:c.318C>T | NP_001278787.1:p.Ile106= | |
| XM_011521513.1:c.318C>T | XP_011519815.1:p.Ile106= | |
| XM_011521514.1:c.318C>T | XP_011519816.1:p.Ile106= | |
| XM_011521515.1:c.318C>T | XP_011519817.1:p.Ile106= | |
| XM_017022136.1:c.393C>T | XP_016877625.1:p.Ile131= | |
| XM_017022137.1:c.393C>T | XP_016877626.1:p.Ile131= | |
| XM_017022138.1:c.393C>T | XP_016877627.1:p.Ile131= | |
| XM_017022139.1:c.-46C>T | XP_016877628.1:n.-46C>T | |
| NM_000875.5:c.318C>T MANE Select | NP_000866.1:p.Ile106= | |
| NM_001291858.2:c.318C>T | NP_001278787.1:p.Ile106= |