Linked Data
ClinVar Variation Id:
6325
dbSNP Id:
rs121908637
ExAC:
9:133342161 G / A
gnomAD v2:
9-133342161-G-A
gnomAD v3:
9-130466774-G-A
gnomAD v4:
9-130466774-G-A
COSMIC:
COSM1105974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130466774G>A , CM000671.2:g.130466774G>A | GRCh38 |
| NC_000009.11:g.133342161G>A , CM000671.1:g.133342161G>A | GRCh37 |
| NC_000009.10:g.132331982G>A | NCBI36 |
| NG_011542.1:g.27068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.470G>A MANE Select | ENSP00000253004.6:p.Arg157His | |
| ENST00000352480.9:c.470G>A | ENSP00000253004.6:p.Arg157His | |
| ENST00000372393.7:c.470G>A | ENSP00000361469.2:p.Arg157His | |
| ENST00000372394.5:c.470G>A | ENSP00000361471.1:p.Arg157His | |
| ENST00000422569.5:c.470G>A | ENSP00000394212.1:p.Arg157His | |
| ENST00000443588.1:c.413G>A | ENSP00000397785.1:p.Arg138His | |
| ENST00000467695.5:n.179G>A | ||
| ENST00000493984.6:n.301G>A | ||
| NM_000050.4:c.470G>A | NP_000041.2:p.Arg157His | |
| NM_054012.3:c.470G>A | NP_446464.1:p.Arg157His | |
| XM_005272200.2:c.470G>A | XP_005272257.1:p.Arg157His | |
| XM_011518705.1:c.584G>A | XP_011517007.1:p.Arg195His | |
| XM_005272200.3:c.470G>A | XP_005272257.1:p.Arg157His | |
| XM_011518705.2:c.584G>A | XP_011517007.1:p.Arg195His | |
| XM_017014729.1:c.566G>A | XP_016870218.1:p.Arg189His | |
| NM_054012.4:c.470G>A MANE Select | NP_446464.1:p.Arg157His |