Linked Data
ClinVar Variation Id:
365884
dbSNP Id:
rs145543466
ExAC:
9:139326938 G / A
gnomAD v2:
9-139326938-G-A
gnomAD v3:
9-136432486-G-A
gnomAD v4:
9-136432486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136432486G>A , CM000671.2:g.136432486G>A | GRCh38 |
| NC_000009.11:g.139326938G>A , CM000671.1:g.139326938G>A | GRCh37 |
| NC_000009.10:g.138446759G>A | NCBI36 |
| NG_016126.1:g.12319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1380C>T MANE Select | ENSP00000360777.3:p.Ser460= | |
| ENST00000676019.1:c.1278C>T | ENSP00000501984.1:p.Ser426= | |
| ENST00000371712.3:c.1380C>T | ENSP00000360777.3:p.Ser460= | |
| NM_019892.4:c.1380C>T | NP_063945.2:p.Ser460= | |
| XM_005266094.2:c.1377C>T | XP_005266151.1:p.Ser459= | |
| XR_929828.1:n.1820C>T | ||
| NM_001318502.1:c.1377C>T | NP_001305431.1:p.Ser459= | |
| NM_019892.5:c.1380C>T | NP_063945.2:p.Ser460= | |
| XM_017014926.1:c.1380C>T | XP_016870415.1:p.Ser460= | |
| XR_929828.2:n.1822C>T | ||
| NM_019892.6:c.1380C>T MANE Select | NP_063945.2:p.Ser460= | |
| NM_001318502.2:c.1377C>T | NP_001305431.1:p.Ser459= |