Linked Data
ClinVar Variation Id:
161584
ClinVar RCV Id:
RCV000149119
dbSNP Id:
rs193921088
COSMIC:
COSM1178299
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5923452A>C , CM000682.2:g.5923452A>C | GRCh38 |
| NC_000020.10:g.5904098A>C , CM000682.1:g.5904098A>C | GRCh37 |
| NC_000020.9:g.5852098A>C | NCBI36 |
| NG_042285.1:g.17125A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378961.9:c.1308A>C MANE Select | ENSP00000368244.4:p.Glu436Asp | |
| ENST00000378961.8:c.1308A>C | ENSP00000368244.4:p.Glu436Asp | |
| NM_001819.2:c.1308A>C | NP_001810.2:p.Glu436Asp | |
| NM_001819.3:c.1308A>C MANE Select | NP_001810.2:p.Glu436Asp |