Linked Data
ClinVar Variation Id:
224344
ClinVar RCV Id:
RCV000416581
dbSNP Id:
rs1057519372
gnomAD v2:
19-46269956-C-T
gnomAD v3:
19-45766698-C-T
gnomAD v4:
19-45766698-C-T
PubMed:
PMID:27657687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766698C>T , CM000681.2:g.45766698C>T | GRCh38 |
| NC_000019.9:g.46269956C>T , CM000681.1:g.46269956C>T | GRCh37 |
| NC_000019.8:g.50961796C>T | NCBI36 |
| NG_012745.1:g.7542G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317578.7:c.1261G>A MANE Select | ENSP00000316842.4:p.Val421Ile | |
| ENST00000317578.6:c.1261G>A | ENSP00000316842.4:p.Val421Ile | |
| ENST00000560160.1:c.587-587G>A | ||
| ENST00000560168.1:c.*449G>A | ENSP00000453189.2:n.*449G>A | |
| ENST00000622857.1:c.16-736G>A | ENSP00000481365.1:n.16-736G>A | |
| NM_175875.4:c.1261G>A | NP_787071.2:p.Val421Ile | |
| NM_175875.5:c.1261G>A MANE Select | NP_787071.3:p.Val421Ile |