Linked Data
ClinVar Variation Id:
379338
dbSNP Id:
rs200871433
ExAC:
5:16572152 C / T
gnomAD v2:
5-16572152-C-T
gnomAD v3:
5-16572043-C-T
gnomAD v4:
5-16572043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16572043C>T , CM000667.2:g.16572043C>T | GRCh38 |
| NC_000005.9:g.16572152C>T , CM000667.1:g.16572152C>T | GRCh37 |
| NC_000005.8:g.16625152C>T | NCBI36 |
| NG_016644.2:g.49967G>A , LRG_363:g.49967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682033.1:c.48G>A | ||
| ENST00000682229.1:c.380G>A | ENSP00000507342.1:p.Arg127His | |
| ENST00000682564.1:c.380G>A | ENSP00000508099.1:p.Arg127His | |
| ENST00000682828.1:n.377G>A | ||
| ENST00000682982.1:n.403G>A | ||
| ENST00000683045.1:n.406G>A | ||
| ENST00000683527.1:c.380G>A | ENSP00000507253.1:p.Arg127His | |
| ENST00000683973.1:n.406G>A | ||
| ENST00000684521.1:c.320+44609G>A | ENSP00000507521.1:n.320+44609G>A | |
| ENST00000684695.1:n.398G>A | ||
| ENST00000306320.10:c.380G>A MANE Select | ENSP00000304642.9:p.Arg127His | |
| ENST00000306320.9:c.380G>A | ENSP00000304642.9:p.Arg127His | |
| NM_001034850.2:c.380G>A , LRG_363t1:c.380G>A | NP_001030022.1:p.Arg127His | |
| XM_011514053.1:c.380G>A | XP_011512355.1:p.Arg127His | |
| XM_011514053.3:c.380G>A | XP_011512355.1:p.Arg127His | |
| NM_001034850.3:c.380G>A MANE Select | NP_001030022.1:p.Arg127His |