Linked Data
ClinVar Variation Id:
374885
ClinVar RCV Id:
RCV000415615
dbSNP Id:
rs1057519288
PubMed:
PMID:26416033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240493068C>A , CM000663.2:g.240493068C>A | GRCh38 |
| NC_000001.10:g.240656368C>A , CM000663.1:g.240656368C>A | GRCh37 |
| NC_000001.9:g.238722991C>A | NCBI36 |
| NG_053136.1:g.124305G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318160.5:c.408G>T MANE Select | ENSP00000318650.4:p.Glu136Asp | |
| ENST00000318160.4:c.408G>T | ENSP00000318650.4:p.Glu136Asp | |
| NM_022469.3:c.408G>T | NP_071914.3:p.Glu136Asp | |
| XM_005273226.2:c.462G>T | XP_005273283.1:p.Glu154Asp | |
| XM_011544249.1:c.408G>T | XP_011542551.1:p.Glu136Asp | |
| XM_005273226.4:c.462G>T | XP_005273283.1:p.Glu154Asp | |
| XM_011544249.2:c.408G>T | XP_011542551.1:p.Glu136Asp | |
| NM_022469.4:c.408G>T MANE Select | NP_071914.3:p.Glu136Asp |