Linked Data
ClinVar Variation Id:
15531
ClinVar RCV Id:
RCV000016796
dbSNP Id:
rs35669628
PubMed:
PMID:3937824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225635G>T , CM000673.2:g.5225635G>T | GRCh38 |
| NC_000011.9:g.5246865G>T , CM000673.1:g.5246865G>T | GRCh37 |
| NC_000011.8:g.5203441G>T | NCBI36 |
| NG_000007.3:g.71981C>A | |
| NG_059281.1:g.6437C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.407C>A | ENSP00000494175.1:p.Ala136Asp | |
| ENST00000335295.4:c.407C>A MANE Select | ENSP00000333994.3:p.Ala136Asp | |
| ENST00000633227.1:c.*223C>A | ENSP00000488004.1:n.*223C>A | |
| NM_000518.4:c.407C>A | NP_000509.1:p.Ala136Asp | |
| NM_000518.5:c.407C>A MANE Select | NP_000509.1:p.Ala136Asp |