Linked Data
ClinVar Variation Id:
60479
dbSNP Id:
rs398123039
COSMIC:
COSM4093412
PubMed:
PMID:23883380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26727991G>A , CM000664.2:g.26727991G>A | GRCh38 |
| NC_000002.11:g.26950859G>A , CM000664.1:g.26950859G>A | GRCh37 |
| NC_000002.10:g.26804363G>A | NCBI36 |
| NG_033884.1:g.40279G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302909.4:c.608G>A MANE Select | ENSP00000306275.3:p.Gly203Asp | |
| ENST00000302909.3:c.608G>A | ENSP00000306275.3:p.Gly203Asp | |
| ENST00000620977.1:c.239G>A | ENSP00000483136.1:p.Gly80Asp | |
| NM_002246.2:c.608G>A | NP_002237.1:p.Gly203Asp | |
| XM_005264293.1:c.278G>A | XP_005264350.1:p.Gly93Asp | |
| XM_005264293.2:c.278G>A | XP_005264350.1:p.Gly93Asp | |
| NM_002246.3:c.608G>A MANE Select | NP_002237.1:p.Gly203Asp |