Linked Data
ClinVar Variation Id:
45681
dbSNP Id:
rs146273185
ExAC:
9:117241002 C / T
gnomAD v2:
9-117241002-C-T
gnomAD v3:
9-114478722-C-T
gnomAD v4:
9-114478722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114478722C>T , CM000671.2:g.114478722C>T | GRCh38 |
| NC_000009.11:g.117241002C>T , CM000671.1:g.117241002C>T | GRCh37 |
| NC_000009.10:g.116280823C>T | NCBI36 |
| NG_016700.1:g.31735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699486.1:c.392G>A | ENSP00000514397.1:p.Arg131His | |
| ENST00000362057.4:c.668G>A MANE Select | ENSP00000354623.3:p.Arg223His | |
| ENST00000673811.1:n.416G>A | ||
| ENST00000265134.10:c.-482G>A | ENSP00000265134.6:n.-482G>A | |
| ENST00000362057.3:c.668G>A | ENSP00000354623.3:p.Arg223His | |
| ENST00000374057.3:c.668G>A | ENSP00000363170.3:p.Arg223His | |
| NM_001083885.2:c.-482G>A | NP_001077354.2:n.-482G>A | |
| NM_001173425.1:c.668G>A | NP_001166896.1:p.Arg223His | |
| NM_015404.3:c.668G>A | NP_056219.3:p.Arg223His | |
| XM_005251897.3:c.668G>A | XP_005251954.2:p.Arg223His | |
| XM_011518484.1:c.668G>A | XP_011516786.1:p.Arg223His | |
| XM_011518485.1:c.668G>A | XP_011516787.1:p.Arg223His | |
| XM_011518486.1:c.668G>A | XP_011516788.1:p.Arg223His | |
| XM_011518487.1:c.668G>A | XP_011516789.1:p.Arg223His | |
| XM_011518488.1:c.668G>A | XP_011516790.1:p.Arg223His | |
| XM_011518489.1:c.668G>A | XP_011516791.1:p.Arg223His | |
| XM_011518490.1:c.668G>A | XP_011516792.1:p.Arg223His | |
| XM_011518491.1:c.668G>A | XP_011516793.1:p.Arg223His | |
| XM_011518492.1:c.668G>A | XP_011516794.1:p.Arg223His | |
| XM_011518493.1:c.668G>A | XP_011516795.1:p.Arg223His | |
| XM_011518494.1:c.668G>A | XP_011516796.1:p.Arg223His | |
| XR_929747.1:n.1376G>A | ||
| XR_929748.1:n.1376G>A | ||
| XR_929749.1:n.1376G>A | ||
| XR_929750.1:n.1376G>A | ||
| XR_929751.1:n.1376G>A | ||
| XR_929752.1:n.1376G>A | ||
| XR_929753.1:n.1376G>A | ||
| XR_929754.1:n.1376G>A | ||
| XR_929755.1:n.1376G>A | ||
| XR_929756.1:n.1376G>A | ||
| XR_929757.1:n.1376G>A | ||
| XM_011518486.2:c.668G>A | XP_011516788.1:p.Arg223His | |
| XM_011518487.2:c.668G>A | XP_011516789.1:p.Arg223His | |
| XM_011518488.2:c.668G>A | XP_011516790.1:p.Arg223His | |
| XM_011518489.3:c.668G>A | XP_011516791.1:p.Arg223His | |
| XM_011518491.3:c.668G>A | XP_011516793.1:p.Arg223His | |
| XM_011518492.2:c.668G>A | XP_011516794.1:p.Arg223His | |
| XM_011518494.3:c.668G>A | XP_011516796.1:p.Arg223His | |
| XR_929747.2:n.687G>A | ||
| XR_929748.2:n.687G>A | ||
| XR_929749.2:n.687G>A | ||
| XR_929750.3:n.687G>A | ||
| XR_929752.2:n.687G>A | ||
| XR_929753.3:n.687G>A | ||
| XR_929754.2:n.687G>A | ||
| XR_929755.3:n.687G>A | ||
| XR_929756.2:n.687G>A | ||
| XR_929757.2:n.687G>A | ||
| NM_015404.4:c.668G>A MANE Select | NP_056219.3:p.Arg223His | |
| NM_001173425.2:c.668G>A | NP_001166896.1:p.Arg223His | |
| NM_001083885.3:c.-482G>A | NP_001077354.2:n.-482G>A |