Linked Data
dbSNP Id:
rs773612286
ExAC:
12:14659998 C / T
gnomAD v2:
12-14659998-C-T
gnomAD v3:
12-14507064-C-T
gnomAD v4:
12-14507064-C-T
COSMIC:
COSM937517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507064C>T , CM000674.2:g.14507064C>T | GRCh38 |
| NC_000012.11:g.14659998C>T , CM000674.1:g.14659998C>T | GRCh37 |
| NC_000012.10:g.14551265C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1241G>A MANE Select | ENSP00000240617.5:p.Gly414Asp | |
| ENST00000240617.9:c.1241G>A | ENSP00000240617.5:p.Gly414Asp | |
| NM_024829.5:c.1241G>A | NP_079105.4:p.Gly414Asp | |
| NM_024829.6:c.1241G>A MANE Select | NP_079105.4:p.Gly414Asp |