Linked Data
ClinVar Variation Id:
265960
dbSNP Id:
rs575001023
ExAC:
9:133333870 G / A
gnomAD v2:
9-133333870-G-A
gnomAD v3:
9-130458483-G-A
gnomAD v4:
9-130458483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130458483G>A , CM000671.2:g.130458483G>A | GRCh38 |
| NC_000009.11:g.133333870G>A , CM000671.1:g.133333870G>A | GRCh37 |
| NC_000009.10:g.132323691G>A | NCBI36 |
| NG_011542.1:g.18777G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.257G>A MANE Select | ENSP00000253004.6:p.Arg86His | |
| ENST00000352480.9:c.257G>A | ENSP00000253004.6:p.Arg86His | |
| ENST00000372393.7:c.257G>A | ENSP00000361469.2:p.Arg86His | |
| ENST00000372394.5:c.257G>A | ENSP00000361471.1:p.Arg86His | |
| ENST00000422569.5:c.257G>A | ENSP00000394212.1:p.Arg86His | |
| ENST00000443588.1:c.257G>A | ENSP00000397785.1:p.Arg86His | |
| NM_000050.4:c.257G>A | NP_000041.2:p.Arg86His | |
| NM_054012.3:c.257G>A | NP_446464.1:p.Arg86His | |
| XM_005272200.2:c.257G>A | XP_005272257.1:p.Arg86His | |
| XM_011518705.1:c.371G>A | XP_011517007.1:p.Arg124His | |
| XM_005272200.3:c.257G>A | XP_005272257.1:p.Arg86His | |
| XM_011518705.2:c.371G>A | XP_011517007.1:p.Arg124His | |
| XM_017014729.1:c.353G>A | XP_016870218.1:p.Arg118His | |
| NM_054012.4:c.257G>A MANE Select | NP_446464.1:p.Arg86His |