Linked Data
ClinVar Variation Id:
1977397
ClinVar RCV Id:
RCV002774787
dbSNP Id:
rs370219399
ExAC:
19:33892648 C / A
gnomAD v2:
19-33892648-C-A
gnomAD v4:
19-33401742-C-A
COSMIC:
COSM1680877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401742C>A , CM000681.2:g.33401742C>A | GRCh38 |
| NC_000019.9:g.33892648C>A , CM000681.1:g.33892648C>A | GRCh37 |
| NC_000019.8:g.38584488C>A | NCBI36 |
| NG_013358.1:g.125152G>T | |
| NG_013358.2:g.125152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.946G>T | ENSP00000468516.4:p.Val316Phe | |
| ENST00000651901.2:c.946G>T | ENSP00000498922.2:p.Val316Phe | |
| ENST00000698359.1:c.901G>T | ENSP00000513682.1:p.Val301Phe | |
| ENST00000698360.1:c.997G>T | ENSP00000513683.1:p.Val333Phe | |
| ENST00000698361.1:c.946G>T | ENSP00000513684.1:p.Val316Phe | |
| ENST00000698362.1:c.946G>T | ENSP00000513685.1:p.Val316Phe | |
| ENST00000698363.1:n.1009G>T | ||
| ENST00000698364.1:n.1009G>T | ||
| ENST00000698365.1:n.1009G>T | ||
| ENST00000698426.1:c.625G>T | ENSP00000513713.1:p.Val209Phe | |
| ENST00000698427.1:c.988G>T | ENSP00000513714.1:p.Val330Phe | |
| ENST00000698428.1:c.625G>T | ENSP00000513715.1:p.Val209Phe | |
| ENST00000698429.1:n.829G>T | ||
| ENST00000698430.1:c.1196G>T | ||
| ENST00000698431.1:c.683G>T | ENSP00000513717.1:n.683G>T | |
| ENST00000698432.1:c.755G>T | ||
| ENST00000698433.1:n.408G>T | ||
| ENST00000698434.1:n.433G>T | ||
| ENST00000244137.12:c.946G>T MANE Select | ENSP00000244137.5:p.Val316Phe | |
| ENST00000588328.6:c.935G>T | ||
| ENST00000590731.6:n.621G>T | ||
| ENST00000651901.1:c.942G>T | ||
| ENST00000244137.11:c.946G>T | ENSP00000244137.5:p.Val316Phe | |
| ENST00000397032.8:c.823G>T | ENSP00000380226.3:p.Val275Phe | |
| ENST00000436370.7:c.754G>T | ENSP00000391890.2:p.Val252Phe | |
| ENST00000588328.5:c.437G>T | ||
| NM_000285.3:c.946G>T | NP_000276.2:p.Val316Phe | |
| NM_001166056.1:c.823G>T | NP_001159528.1:p.Val275Phe | |
| NM_001166057.1:c.754G>T | NP_001159529.1:p.Val252Phe | |
| NM_000285.4:c.946G>T MANE Select | NP_000276.2:p.Val316Phe | |
| NM_001166056.2:c.823G>T | NP_001159528.1:p.Val275Phe | |
| NM_001166057.2:c.754G>T | NP_001159529.1:p.Val252Phe |