Linked Data
dbSNP Id:
rs1254627421
gnomAD v2:
12-80878355-G-A
gnomAD v3:
12-80484576-G-A
gnomAD v4:
12-80484576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484576G>A , CM000674.2:g.80484576G>A | GRCh38 |
| NC_000012.11:g.80878355G>A , CM000674.1:g.80878355G>A | GRCh37 |
| NC_000012.10:g.79402486G>A | NCBI36 |
| NG_034052.1:g.45231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.1330G>A MANE Select | ENSP00000495607.1:p.Glu444Lys | |
| ENST00000614701.4:c.1330G>A | ENSP00000482885.1:p.Glu444Lys | |
| ENST00000616559.4:c.1456G>A | ENSP00000483259.1:p.Glu486Lys | |
| NM_001145026.1:c.1330G>A | NP_001138498.1:p.Glu444Lys | |
| XM_011538290.1:c.1330G>A | XP_011536592.1:p.Glu444Lys | |
| XM_017019273.1:c.1996G>A | XP_016874762.1:p.Glu666Lys | |
| XM_017019274.1:c.1996G>A | XP_016874763.1:p.Glu666Lys | |
| XM_017019275.1:c.1996G>A | XP_016874764.1:p.Glu666Lys | |
| XR_001748688.1:n.2133G>A | ||
| XR_001748689.1:n.2133G>A | ||
| NM_001145026.2:c.1330G>A MANE Select | NP_001138498.1:p.Glu444Lys |