Linked Data
dbSNP Id:
rs779391805
ExAC:
9:116151299 T / C
gnomAD v2:
9-116151299-T-C
gnomAD v4:
9-113389019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389019T>C , CM000671.2:g.113389019T>C | GRCh38 |
| NC_000009.11:g.116151299T>C , CM000671.1:g.116151299T>C | GRCh37 |
| NC_000009.10:g.115191120T>C | NCBI36 |
| NG_008716.1:g.17320A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.889A>G MANE Select | ENSP00000386284.3:p.Lys297Glu | |
| ENST00000409155.7:c.889A>G | ENSP00000386284.3:p.Lys297Glu | |
| ENST00000482847.5:n.1162A>G | ||
| NM_000031.5:c.889A>G | NP_000022.3:p.Lys297Glu | |
| XM_005251799.1:c.976A>G | XP_005251856.1:p.Lys326Glu | |
| XM_011518363.1:c.1015A>G | XP_011516665.1:p.Lys339Glu | |
| XM_011518364.1:c.916A>G | XP_011516666.1:p.Lys306Glu | |
| NM_001003945.2:c.976A>G | NP_001003945.1:p.Lys326Glu | |
| NM_001317745.1:c.865A>G | NP_001304674.1:p.Lys289Glu | |
| XM_011518364.2:c.916A>G | XP_011516666.1:p.Lys306Glu | |
| XM_024447449.1:c.976A>G | XP_024303217.1:p.Lys326Glu | |
| NM_000031.6:c.889A>G MANE Select | NP_000022.3:p.Lys297Glu | |
| NM_001003945.3:c.976A>G | NP_001003945.1:p.Lys326Glu | |
| NM_001317745.2:c.865A>G | NP_001304674.1:p.Lys289Glu |