Linked Data
dbSNP Id:
rs1054627
ExAC:
4:88732692 G / A
gnomAD v2:
4-88732692-G-A
gnomAD v3:
4-87811540-G-A
gnomAD v4:
4-87811540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87811540G>A , CM000666.2:g.87811540G>A | GRCh38 |
| NC_000004.11:g.88732692G>A , CM000666.1:g.88732692G>A | GRCh37 |
| NC_000004.10:g.88951716G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226284.7:c.584G>A MANE Select | ENSP00000226284.5:p.Gly195Glu | |
| ENST00000226284.6:c.584G>A | ENSP00000226284.5:p.Gly195Glu | |
| NM_004967.3:c.584G>A | NP_004958.2:p.Gly195Glu | |
| NM_004967.4:c.584G>A MANE Select | NP_004958.2:p.Gly195Glu |