Linked Data
dbSNP Id:
rs749655574
ExAC:
9:116151313 C / T
gnomAD v2:
9-116151313-C-T
gnomAD v4:
9-113389033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389033C>T , CM000671.2:g.113389033C>T | GRCh38 |
| NC_000009.11:g.116151313C>T , CM000671.1:g.116151313C>T | GRCh37 |
| NC_000009.10:g.115191134C>T | NCBI36 |
| NG_008716.1:g.17306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.875G>A MANE Select | ENSP00000386284.3:p.Gly292Glu | |
| ENST00000409155.7:c.875G>A | ENSP00000386284.3:p.Gly292Glu | |
| ENST00000482847.5:n.1148G>A | ||
| NM_000031.5:c.875G>A | NP_000022.3:p.Gly292Glu | |
| XM_005251799.1:c.962G>A | XP_005251856.1:p.Gly321Glu | |
| XM_011518363.1:c.1001G>A | XP_011516665.1:p.Gly334Glu | |
| XM_011518364.1:c.902G>A | XP_011516666.1:p.Gly301Glu | |
| NM_001003945.2:c.962G>A | NP_001003945.1:p.Gly321Glu | |
| NM_001317745.1:c.851G>A | NP_001304674.1:p.Gly284Glu | |
| XM_011518364.2:c.902G>A | XP_011516666.1:p.Gly301Glu | |
| XM_024447449.1:c.962G>A | XP_024303217.1:p.Gly321Glu | |
| NM_000031.6:c.875G>A MANE Select | NP_000022.3:p.Gly292Glu | |
| NM_001003945.3:c.962G>A | NP_001003945.1:p.Gly321Glu | |
| NM_001317745.2:c.851G>A | NP_001304674.1:p.Gly284Glu |