Linked Data
ClinVar Variation Id:
449362
dbSNP Id:
rs144701596
ExAC:
2:219679695 G / A
gnomAD v2:
2-219679695-G-A
gnomAD v4:
2-218814972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814972G>A , CM000664.2:g.218814972G>A | GRCh38 |
| NC_000002.11:g.219679695G>A , CM000664.1:g.219679695G>A | GRCh37 |
| NC_000002.10:g.219387939G>A | NCBI36 |
| NG_007959.1:g.38224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1538G>A MANE Select | ENSP00000258415.4:p.Arg513His | |
| ENST00000258415.8:c.1538G>A | ENSP00000258415.4:p.Arg513His | |
| ENST00000494263.5:n.2250G>A | ||
| NM_000784.3:c.1538G>A | NP_000775.1:p.Arg513His | |
| XM_017003488.2:c.1118G>A | XP_016858977.1:p.Arg373His | |
| NM_000784.4:c.1538G>A MANE Select | NP_000775.1:p.Arg513His |