Linked Data
ClinVar Variation Id:
15839
ClinVar RCV Id:
RCV000017184
dbSNP Id:
rs63750467
PubMed:
PMID:2079432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177362A>T , CM000678.2:g.177362A>T | GRCh38 |
| NC_000016.9:g.227361A>T , CM000678.1:g.227361A>T | GRCh37 |
| NC_000016.8:g.167361A>T | NCBI36 |
| NG_000006.1:g.38225A>T | |
| NG_059186.1:g.5712A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.380A>T MANE Select | ENSP00000322421.5:p.Asp127Val | |
| ENST00000397797.1:c.284A>T | ENSP00000380899.1:p.Asp95Val | |
| ENST00000472694.1:n.516A>T | ||
| NM_000558.4:c.380A>T | NP_000549.1:p.Asp127Val | |
| NM_000558.5:c.380A>T MANE Select | NP_000549.1:p.Asp127Val |