Linked Data
ClinVar Variation Id:
415259
ClinVar RCV Id:
RCV001488346
dbSNP Id:
rs751437266
ExAC:
11:118039387 G / A
gnomAD v2:
11-118039387-G-A
gnomAD v3:
11-118168672-G-A
gnomAD v4:
11-118168672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168672G>A , CM000673.2:g.118168672G>A | GRCh38 |
| NC_000011.9:g.118039387G>A , CM000673.1:g.118039387G>A | GRCh37 |
| NC_000011.8:g.117544597G>A | NCBI36 |
| NG_042217.1:g.12951C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278947.6:c.150C>T MANE Select | ENSP00000278947.5:p.Cys50= | |
| ENST00000658882.1:c.254C>T | ENSP00000499572.1:p.Ala85Val | |
| ENST00000665446.1:n.386C>T | ||
| ENST00000669850.1:n.392C>T | ||
| ENST00000278947.5:c.150C>T | ENSP00000278947.5:p.Cys50= | |
| NM_004588.4:c.150C>T | NP_004579.1:p.Cys50= | |
| NM_004588.5:c.150C>T MANE Select | NP_004579.1:p.Cys50= |