Linked Data
dbSNP Id:
rs1208349495
gnomAD v2:
9-126139327-G-A
gnomAD v4:
9-123377048-G-A
COSMIC:
COSM4545705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377048G>A , CM000671.2:g.123377048G>A | GRCh38 |
| NC_000009.11:g.126139327G>A , CM000671.1:g.126139327G>A | GRCh37 |
| NC_000009.10:g.125179148G>A | NCBI36 |
| NG_051311.1:g.27984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3844G>A MANE Select | ENSP00000362734.3:p.Glu1282Lys | |
| ENST00000373631.7:c.3844G>A | ENSP00000362734.3:p.Glu1282Lys | |
| ENST00000460253.1:c.2848G>A | ENSP00000435279.1:p.Glu950Lys | |
| NM_173689.6:c.3844G>A | NP_775960.4:p.Glu1282Lys | |
| NR_104603.1:n.2958G>A | ||
| XM_005251934.1:c.2848G>A | XP_005251991.1:p.Glu950Lys | |
| XM_011518556.1:c.3817G>A | XP_011516858.1:p.Glu1273Lys | |
| XM_011518557.1:c.3649G>A | XP_011516859.1:p.Glu1217Lys | |
| XM_011518558.1:c.3649G>A | XP_011516860.1:p.Glu1217Lys | |
| XM_005251934.3:c.2848G>A | XP_005251991.1:p.Glu950Lys | |
| XM_011518556.3:c.3817G>A | XP_011516858.1:p.Glu1273Lys | |
| XM_011518557.3:c.3649G>A | XP_011516859.1:p.Glu1217Lys | |
| XM_011518558.3:c.3649G>A | XP_011516860.1:p.Glu1217Lys | |
| NM_173689.7:c.3844G>A MANE Select | NP_775960.4:p.Glu1282Lys | |
| NR_104603.2:n.2958G>A |