Linked Data
dbSNP Id:
rs753084398
ExAC:
12:5154557 G / A
gnomAD v2:
12-5154557-G-A
gnomAD v4:
12-5045391-G-A
COSMIC:
COSM312145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045391G>A , CM000674.2:g.5045391G>A | GRCh38 |
| NC_000012.11:g.5154557G>A , CM000674.1:g.5154557G>A | GRCh37 |
| NC_000012.10:g.5024818G>A | NCBI36 |
| NG_012198.1:g.6473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1244G>A MANE Select | ENSP00000252321.3:p.Arg415His | |
| ENST00000252321.4:c.1244G>A | ENSP00000252321.3:p.Arg415His | |
| NM_002234.3:c.1244G>A | NP_002225.2:p.Arg415His | |
| NM_002234.4:c.1244G>A MANE Select | NP_002225.2:p.Arg415His |