Linked Data
ClinVar Variation Id:
12623
dbSNP Id:
rs121918680
ExAC:
3:133478150 G / A
gnomAD v2:
3-133478150-G-A
gnomAD v3:
3-133759306-G-A
gnomAD v4:
3-133759306-G-A
COSMIC:
COSM1038567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133759306G>A , CM000665.2:g.133759306G>A | GRCh38 |
| NC_000003.11:g.133478150G>A , CM000665.1:g.133478150G>A | GRCh37 |
| NC_000003.10:g.134960840G>A | NCBI36 |
| NG_013080.1:g.18174G>A | |
| NG_013080.2:g.102309G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1180G>A MANE Select | ENSP00000385834.3:p.Glu394Lys | |
| ENST00000402696.7:c.1180G>A | ENSP00000385834.3:p.Glu394Lys | |
| NM_001063.3:c.1180G>A | NP_001054.1:p.Glu394Lys | |
| XM_011513100.1:c.1180G>A | XP_011511402.1:p.Glu394Lys | |
| NM_001354703.1:c.1048G>A | NP_001341632.1:p.Glu350Lys | |
| NM_001354704.1:c.799G>A | NP_001341633.1:p.Glu267Lys | |
| NM_001063.4:c.1180G>A MANE Select | NP_001054.2:p.Glu394Lys | |
| NM_001354703.2:c.1048G>A | NP_001341632.2:p.Glu350Lys | |
| NM_001354704.2:c.799G>A | NP_001341633.2:p.Glu267Lys |