Linked Data
dbSNP Id:
rs768294281
ExAC:
12:5154203 G / A
gnomAD v2:
12-5154203-G-A
gnomAD v4:
12-5045037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045037G>A , CM000674.2:g.5045037G>A | GRCh38 |
| NC_000012.11:g.5154203G>A , CM000674.1:g.5154203G>A | GRCh37 |
| NC_000012.10:g.5024464G>A | NCBI36 |
| NG_012198.1:g.6119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.890G>A MANE Select | ENSP00000252321.3:p.Gly297Glu | |
| ENST00000252321.4:c.890G>A | ENSP00000252321.3:p.Gly297Glu | |
| NM_002234.3:c.890G>A | NP_002225.2:p.Gly297Glu | |
| NM_002234.4:c.890G>A MANE Select | NP_002225.2:p.Gly297Glu |