Linked Data
ClinVar Variation Id:
16920
ClinVar RCV Id:
RCV000018422
dbSNP Id:
rs62642055
PubMed:
PMID:12828738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807687C>T , CM000674.2:g.52807687C>T | GRCh38 |
| NC_000012.11:g.53201471C>T , CM000674.1:g.53201471C>T | GRCh37 |
| NC_000012.10:g.51487738C>T | NCBI36 |
| NG_007380.1:g.11865G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551956.2:c.1303G>A MANE Select | ENSP00000448220.1:p.Glu435Lys | |
| ENST00000548097.5:c.*815G>A | ENSP00000449755.1:n.*815G>A | |
| ENST00000551956.1:c.1303G>A | ENSP00000448220.1:p.Glu435Lys | |
| NM_002272.3:c.1303G>A | NP_002263.3:p.Glu435Lys | |
| NM_002272.4:c.1303G>A MANE Select | NP_002263.3:p.Glu435Lys |