Linked Data
ClinVar Variation Id:
389203
dbSNP Id:
rs117833843
ExAC:
12:57906072 C / T
gnomAD v2:
12-57906072-C-T
gnomAD v3:
12-57512289-C-T
gnomAD v4:
12-57512289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57512289C>T , CM000674.2:g.57512289C>T | GRCh38 |
| NC_000012.11:g.57906072C>T , CM000674.1:g.57906072C>T | GRCh37 |
| NC_000012.10:g.56192339C>T | NCBI36 |
| NG_034077.1:g.29337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1689C>T MANE Select | ENSP00000262027.5:p.Val563= | |
| ENST00000262027.9:c.1689C>T | ENSP00000262027.5:p.Val563= | |
| ENST00000537638.6:c.1636-14C>T | ENSP00000446168.2:n.1636-14C>T | |
| ENST00000545888.6:c.*1190C>T | ENSP00000439307.2:n.*1190C>T | |
| ENST00000546971.5:n.433C>T | ||
| ENST00000548630.1:n.382C>T | ||
| ENST00000548944.1:c.134-4206C>T | ENSP00000449071.1:n.134-4206C>T | |
| ENST00000549048.1:n.354C>T | ||
| ENST00000628866.2:c.*1190C>T | ENSP00000486738.1:n.*1190C>T | |
| NM_004990.3:c.1689C>T | NP_004981.2:p.Val563= | |
| XM_006719398.2:c.987C>T | XP_006719461.1:p.Val329= | |
| XM_011538353.1:c.1636-14C>T | XP_011536655.1:n.1636-14C>T | |
| XM_006719398.4:c.987C>T | XP_006719461.1:p.Val329= | |
| XR_001748704.2:n.1659-14C>T | ||
| XR_002957327.1:n.1636C>T | ||
| NM_004990.4:c.1689C>T MANE Select | NP_004981.2:p.Val563= |