Linked Data
ClinVar Variation Id:
31653
ClinVar RCV Id:
RCV000024347
dbSNP Id:
rs797045125
PubMed:
PMID:22541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925835C>T , CM000663.2:g.149925835C>T | GRCh38 |
| NC_000001.10:g.149897727C>T , CM000663.1:g.149897727C>T | GRCh37 |
| NC_000001.9:g.148164351C>T | NCBI36 |
| NG_032777.1:g.7418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.913+1G>A MANE Select | ENSP00000271628.8:n.913+1G>A | |
| ENST00000271628.8:c.913+1G>A | ENSP00000271628.8:n.913+1G>A | |
| NM_005850.4:c.913+1G>A | NP_005841.1:n.913+1G>A | |
| NM_005850.5:c.913+1G>A MANE Select | NP_005841.1:n.913+1G>A |