Linked Data
dbSNP Id:
rs544908256
ExAC:
12:5154212 G / A
gnomAD v2:
12-5154212-G-A
gnomAD v3:
12-5045046-G-A
gnomAD v4:
12-5045046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045046G>A , CM000674.2:g.5045046G>A | GRCh38 |
| NC_000012.11:g.5154212G>A , CM000674.1:g.5154212G>A | GRCh37 |
| NC_000012.10:g.5024473G>A | NCBI36 |
| NG_012198.1:g.6128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.899G>A MANE Select | ENSP00000252321.3:p.Gly300Asp | |
| ENST00000252321.4:c.899G>A | ENSP00000252321.3:p.Gly300Asp | |
| NM_002234.3:c.899G>A | NP_002225.2:p.Gly300Asp | |
| NM_002234.4:c.899G>A MANE Select | NP_002225.2:p.Gly300Asp |