Linked Data
dbSNP Id:
rs1564368258
gnomAD v2:
9-116151265-C-T
gnomAD v3:
9-113388985-C-T
gnomAD v4:
9-113388985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113388985C>T , CM000671.2:g.113388985C>T | GRCh38 |
| NC_000009.11:g.116151265C>T , CM000671.1:g.116151265C>T | GRCh37 |
| NC_000009.10:g.115191086C>T | NCBI36 |
| NG_008716.1:g.17354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.923G>A MANE Select | ENSP00000386284.3:p.Arg308His | |
| ENST00000409155.7:c.923G>A | ENSP00000386284.3:p.Arg308His | |
| ENST00000482847.5:n.1196G>A | ||
| NM_000031.5:c.923G>A | NP_000022.3:p.Arg308His | |
| XM_005251799.1:c.1010G>A | XP_005251856.1:p.Arg337His | |
| XM_011518363.1:c.1049G>A | XP_011516665.1:p.Arg350His | |
| XM_011518364.1:c.950G>A | XP_011516666.1:p.Arg317His | |
| NM_001003945.2:c.1010G>A | NP_001003945.1:p.Arg337His | |
| NM_001317745.1:c.899G>A | NP_001304674.1:p.Arg300His | |
| XM_011518364.2:c.950G>A | XP_011516666.1:p.Arg317His | |
| XM_024447449.1:c.1010G>A | XP_024303217.1:p.Arg337His | |
| NM_000031.6:c.923G>A MANE Select | NP_000022.3:p.Arg308His | |
| NM_001003945.3:c.1010G>A | NP_001003945.1:p.Arg337His | |
| NM_001317745.2:c.899G>A | NP_001304674.1:p.Arg300His |