Linked Data
dbSNP Id:
rs746523647
ExAC:
12:5153533 G / A
gnomAD v2:
12-5153533-G-A
gnomAD v4:
12-5044367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044367G>A , CM000674.2:g.5044367G>A | GRCh38 |
| NC_000012.11:g.5153533G>A , CM000674.1:g.5153533G>A | GRCh37 |
| NC_000012.10:g.5023794G>A | NCBI36 |
| NG_012198.1:g.5449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.220G>A MANE Select | ENSP00000252321.3:p.Gly74Arg | |
| ENST00000252321.4:c.220G>A | ENSP00000252321.3:p.Gly74Arg | |
| NM_002234.3:c.220G>A | NP_002225.2:p.Gly74Arg | |
| NM_002234.4:c.220G>A MANE Select | NP_002225.2:p.Gly74Arg |