Linked Data
dbSNP Id:
rs200878391
ExAC:
19:6681988 G / A
gnomAD v3:
19-6681977-G-A
gnomAD v4:
19-6681977-G-A
COSMIC:
COSM4494353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681977G>A , CM000681.2:g.6681977G>A | GRCh38 |
| NC_000019.9:g.6681988G>A , CM000681.1:g.6681988G>A | GRCh37 |
| NC_000019.8:g.6632988G>A | NCBI36 |
| NG_009557.1:g.43675C>T , LRG_27:g.43675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2662C>T | ||
| ENST00000695653.1:c.2223C>T | ENSP00000512084.1:p.Phe741= | |
| ENST00000695654.1:c.3339C>T | ENSP00000512085.1:p.Phe1113= | |
| ENST00000695689.1:c.285C>T | ENSP00000512101.1:n.285C>T | |
| ENST00000695690.1:n.505C>T | ||
| ENST00000695691.1:n.505C>T | ||
| ENST00000245907.11:c.4314C>T MANE Select | ENSP00000245907.4:p.Phe1438= | |
| ENST00000245907.10:c.4314C>T | ENSP00000245907.4:p.Phe1438= | |
| ENST00000596548.1:c.435C>T | ENSP00000469744.1:p.Phe145= | |
| ENST00000599899.5:n.1273C>T | ||
| ENST00000601008.1:c.242-4019C>T | ENSP00000471384.1:n.242-4019C>T | |
| NM_000064.3:c.4314C>T | NP_000055.2:p.Phe1438= | |
| NM_000064.4:c.4314C>T MANE Select | NP_000055.2:p.Phe1438= |