Linked Data
dbSNP Id:
rs1464761308
gnomAD v2:
3-124456436-G-A
gnomAD v3:
3-124737589-G-A
gnomAD v4:
3-124737589-G-A
COSMIC:
COSM4991824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737589G>A , CM000665.2:g.124737589G>A | GRCh38 |
| NC_000003.11:g.124456436G>A , CM000665.1:g.124456436G>A | GRCh37 |
| NC_000003.10:g.125939126G>A | NCBI36 |
| NG_017037.1:g.12224G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.332G>A MANE Select | ENSP00000232607.2:p.Gly111Glu | |
| ENST00000232607.6:c.332G>A | ENSP00000232607.2:p.Gly111Glu | |
| ENST00000460034.5:c.*76G>A | ENSP00000420409.1:n.*76G>A | |
| ENST00000462091.5:c.*4G>A | ENSP00000417893.1:n.*4G>A | |
| ENST00000467167.5:c.*230G>A | ENSP00000419618.1:n.*230G>A | |
| ENST00000474588.5:c.311-326G>A | ENSP00000420348.1:n.311-326G>A | |
| ENST00000479719.5:c.332G>A | ENSP00000420754.1:p.Gly111Glu | |
| ENST00000497791.5:c.*4G>A | ENSP00000419121.1:n.*4G>A | |
| ENST00000498715.1:n.50G>A | ||
| NM_000373.3:c.332G>A | NP_000364.1:p.Gly111Glu | |
| NR_033434.1:n.284G>A | ||
| NR_033437.1:n.537G>A | ||
| XR_001740253.2:n.362G>A | ||
| NM_000373.4:c.332G>A MANE Select | NP_000364.1:p.Gly111Glu | |
| NR_033434.2:n.198G>A | ||
| NR_033437.2:n.451G>A |