Linked Data
ClinVar Variation Id:
3162588
ClinVar RCV Id:
RCV004455987
dbSNP Id:
rs527819955
gnomAD v3:
19-45766961-G-A
gnomAD v4:
19-45766961-G-A
COSMIC:
COSM1612424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766961G>A , CM000681.2:g.45766961G>A | GRCh38 |
| NC_000019.9:g.46270219G>A , CM000681.1:g.46270219G>A | GRCh37 |
| NC_000019.8:g.50962059G>A | NCBI36 |
| NG_012745.1:g.7279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.998C>T MANE Select | ENSP00000316842.4:p.Ser333Phe | |
| ENST00000317578.6:c.998C>T | ENSP00000316842.4:p.Ser333Phe | |
| ENST00000560160.1:c.587-850C>T | ||
| ENST00000560168.1:c.*186C>T | ENSP00000453189.2:n.*186C>T | |
| ENST00000622857.1:c.16-999C>T | ENSP00000481365.1:n.16-999C>T | |
| NM_175875.4:c.998C>T | NP_787071.2:p.Ser333Phe | |
| NM_175875.5:c.998C>T MANE Select | NP_787071.3:p.Ser333Phe |