Linked Data
ClinVar Variation Id:
2215006
ClinVar RCV Id:
RCV004075835
dbSNP Id:
rs149628324
ExAC:
7:93055846 C / T
gnomAD v2:
7-93055846-C-T
gnomAD v3:
7-93426534-C-T
gnomAD v4:
7-93426534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426534C>T , CM000669.2:g.93426534C>T | GRCh38 |
| NC_000007.13:g.93055846C>T , CM000669.1:g.93055846C>T | GRCh37 |
| NC_000007.12:g.92893782C>T | NCBI36 |
| NG_013005.1:g.153197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426151.7:c.1247G>A MANE Select | ENSP00000389295.1:p.Arg416His | |
| ENST00000649521.1:c.1295G>A | ENSP00000497687.1:p.Arg432His | |
| ENST00000359558.6:c.1349G>A | ENSP00000352561.2:p.Arg450His | |
| ENST00000360249.8:c.*757G>A | ENSP00000353385.5:n.*757G>A | |
| ENST00000394441.5:c.1247G>A | ENSP00000377959.1:p.Arg416His | |
| ENST00000415529.2:c.1297G>A | ENSP00000413179.1:n.1297G>A | |
| ENST00000421592.5:c.1295G>A | ENSP00000399552.1:p.Arg432His | |
| ENST00000423724.5:c.1345G>A | ENSP00000391369.1:n.1345G>A | |
| ENST00000426151.5:c.1247G>A | ENSP00000389295.1:p.Arg416His | |
| NM_001164737.1:c.1349G>A | NP_001158209.1:p.Arg450His | |
| NM_001164738.1:c.1247G>A | NP_001158210.1:p.Arg416His | |
| NM_001742.3:c.1247G>A | NP_001733.1:p.Arg416His | |
| NM_001164737.2:c.1295G>A | NP_001158209.2:p.Arg432His | |
| NM_001742.4:c.1247G>A MANE Select | NP_001733.1:p.Arg416His | |
| NM_001164737.3:c.1295G>A | NP_001158209.2:p.Arg432His | |
| NM_001164738.2:c.1247G>A | NP_001158210.1:p.Arg416His |