Linked Data
dbSNP Id:
rs764311002
ExAC:
9:116151269 A / G
gnomAD v2:
9-116151269-A-G
gnomAD v4:
9-113388989-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113388989A>G , CM000671.2:g.113388989A>G | GRCh38 |
| NC_000009.11:g.116151269A>G , CM000671.1:g.116151269A>G | GRCh37 |
| NC_000009.10:g.115191090A>G | NCBI36 |
| NG_008716.1:g.17350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.919T>C MANE Select | ENSP00000386284.3:p.Phe307Leu | |
| ENST00000409155.7:c.919T>C | ENSP00000386284.3:p.Phe307Leu | |
| ENST00000482847.5:n.1192T>C | ||
| NM_000031.5:c.919T>C | NP_000022.3:p.Phe307Leu | |
| XM_005251799.1:c.1006T>C | XP_005251856.1:p.Phe336Leu | |
| XM_011518363.1:c.1045T>C | XP_011516665.1:p.Phe349Leu | |
| XM_011518364.1:c.946T>C | XP_011516666.1:p.Phe316Leu | |
| NM_001003945.2:c.1006T>C | NP_001003945.1:p.Phe336Leu | |
| NM_001317745.1:c.895T>C | NP_001304674.1:p.Phe299Leu | |
| XM_011518364.2:c.946T>C | XP_011516666.1:p.Phe316Leu | |
| XM_024447449.1:c.1006T>C | XP_024303217.1:p.Phe336Leu | |
| NM_000031.6:c.919T>C MANE Select | NP_000022.3:p.Phe307Leu | |
| NM_001003945.3:c.1006T>C | NP_001003945.1:p.Phe336Leu | |
| NM_001317745.2:c.895T>C | NP_001304674.1:p.Phe299Leu |