Linked Data
dbSNP Id:
rs369527445
ExAC:
17:39739911 G / A
gnomAD v2:
17-39739911-G-A
gnomAD v3:
17-41583659-G-A
gnomAD v4:
17-41583659-G-A
COSMIC:
COSM312402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583659G>A , CM000679.2:g.41583659G>A | GRCh38 |
| NC_000017.10:g.39739911G>A , CM000679.1:g.39739911G>A | GRCh37 |
| NC_000017.9:g.36993437G>A | NCBI36 |
| NG_008624.1:g.8237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.945C>T MANE Select | ENSP00000167586.6:p.Arg315= | |
| ENST00000167586.6:c.945C>T | ENSP00000167586.6:p.Arg315= | |
| ENST00000476662.1:n.395C>T | ||
| NM_000526.4:c.945C>T | NP_000517.2:p.Arg315= | |
| NM_000526.5:c.945C>T MANE Select | NP_000517.3:p.Arg315= |