Linked Data
ClinVar Variation Id:
1399490
ClinVar RCV Id:
RCV001893811
dbSNP Id:
rs377588972
ExAC:
1:173878971 C / T
gnomAD v2:
1-173878971-C-T
gnomAD v3:
1-173909833-C-T
gnomAD v4:
1-173909833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909833C>T , CM000663.2:g.173909833C>T | GRCh38 |
| NC_000001.10:g.173878971C>T , CM000663.1:g.173878971C>T | GRCh37 |
| NC_000001.9:g.172145594C>T | NCBI36 |
| NG_012462.1:g.12546G>A , LRG_577:g.12546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.872G>A MANE Select | ENSP00000356671.3:p.Arg291His | |
| ENST00000367698.3:c.872G>A | ENSP00000356671.3:p.Arg291His | |
| ENST00000487183.1:n.523G>A | ||
| ENST00000617423.4:c.559+2031G>A | ENSP00000478688.1:n.559+2031G>A | |
| NM_000488.3:c.872G>A , LRG_577t1:c.872G>A | NP_000479.1:p.Arg291His | |
| XM_005245198.2:c.728G>A | XP_005245255.1:p.Arg243His | |
| NM_001365052.1:c.728G>A | NP_001351981.1:p.Arg243His | |
| NM_000488.4:c.872G>A MANE Select | NP_000479.1:p.Arg291His | |
| NM_001365052.2:c.728G>A | NP_001351981.1:p.Arg243His | |
| NM_001386302.1:c.995G>A | NP_001373231.1:p.Arg332His | |
| NM_001386303.1:c.953G>A | NP_001373232.1:p.Arg318His | |
| NM_001386304.1:c.851G>A | NP_001373233.1:p.Arg284His | |
| NM_001386305.1:c.815G>A | NP_001373234.1:p.Arg272His | |
| NM_001386306.1:c.656G>A | NP_001373235.1:p.Arg219His |