Linked Data
ClinVar Variation Id:
267211
ClinVar RCV Id:
RCV000257970
dbSNP Id:
rs886040861
PubMed:
PMID:27616483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419722G>A , CM000681.2:g.48419722G>A | GRCh38 |
| NC_000019.9:g.48922979G>A , CM000681.1:g.48922979G>A | GRCh37 |
| NC_000019.8:g.53614791G>A | NCBI36 |
| NG_052829.1:g.29848G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263269.4:c.1999G>A MANE Select | ENSP00000263269.2:p.Val667Ile | |
| ENST00000263269.3:c.1999G>A | ENSP00000263269.2:p.Val667Ile | |
| NM_000836.2:c.1999G>A | NP_000827.2:p.Val667Ile | |
| XM_011526872.1:c.1999G>A | XP_011525174.1:p.Val667Ile | |
| NM_000836.4:c.1999G>A MANE Select | NP_000827.2:p.Val667Ile |