Linked Data
dbSNP Id:
rs1862770192
gnomAD v4:
12-5045737-G-A
MyVariant Identifiers:
chr12:g.5154903G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045737G>A , CM000674.2:g.5045737G>A | GRCh38 |
| NC_000012.11:g.5154903G>A , CM000674.1:g.5154903G>A | GRCh37 |
| NC_000012.10:g.5025164G>A | NCBI36 |
| NG_012198.1:g.6819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1590G>A MANE Select | ENSP00000252321.3:p.Glu530= | |
| ENST00000252321.4:c.1590G>A | ENSP00000252321.3:p.Glu530= | |
| NM_002234.3:c.1590G>A | NP_002225.2:p.Glu530= | |
| NM_002234.4:c.1590G>A MANE Select | NP_002225.2:p.Glu530= |