Linked Data
ClinVar Variation Id:
488050
ClinVar RCV Id:
RCV000577887
dbSNP Id:
rs1555657073
PubMed:
PMID:29276006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44558989G>T , CM000679.2:g.44558989G>T | GRCh38 |
| NC_000017.10:g.42636357G>T , CM000679.1:g.42636357G>T | GRCh37 |
| NC_000017.9:g.39991883G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315323.5:c.1301G>T MANE Select | ENSP00000323901.3:p.Gly434Val | |
| ENST00000315323.4:c.1301G>T | ENSP00000323901.3:p.Gly434Val | |
| NM_001466.3:c.1301G>T | NP_001457.1:p.Gly434Val | |
| NM_001466.4:c.1301G>T MANE Select | NP_001457.1:p.Gly434Val |