Linked Data
dbSNP Id:
rs369601773
ExAC:
10:82034808 C / A
gnomAD v2:
10-82034808-C-A
gnomAD v4:
10-80275052-C-A
COSMIC:
COSM4650207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275052C>A , CM000672.2:g.80275052C>A | GRCh38 |
| NC_000010.10:g.82034808C>A , CM000672.1:g.82034808C>A | GRCh37 |
| NC_000010.9:g.82024788C>A | NCBI36 |
| NG_008083.1:g.19627G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.916G>T MANE Select | ENSP00000361287.3:p.Val306Leu | |
| ENST00000372213.7:c.916G>T | ENSP00000361287.3:p.Val306Leu | |
| ENST00000480845.1:n.148G>T | ||
| ENST00000485270.5:n.428G>T | ||
| NM_000429.2:c.916G>T | NP_000420.1:p.Val306Leu | |
| XM_005269842.3:c.916G>T | XP_005269899.1:p.Val306Leu | |
| XM_005269843.3:c.793G>T | XP_005269900.1:p.Val265Leu | |
| NM_000429.3:c.916G>T MANE Select | NP_000420.1:p.Val306Leu |