Linked Data
ClinVar Variation Id:
216559
ClinVar RCV Id:
RCV001371784
dbSNP Id:
rs771569331
ExAC:
2:47604179 G / A
gnomAD v2:
2-47604179-G-A
gnomAD v3:
2-47377040-G-A
gnomAD v4:
2-47377040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377040G>A , CM000664.2:g.47377040G>A | GRCh38 |
| NC_000002.11:g.47604179G>A , CM000664.1:g.47604179G>A | GRCh37 |
| NC_000002.10:g.47457683G>A | NCBI36 |
| NG_012352.2:g.36878G>A , LRG_215:g.36878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.518G>A MANE Select | ENSP00000263735.4:p.Arg173His | |
| ENST00000263735.8:c.518G>A | ENSP00000263735.4:p.Arg173His | |
| ENST00000405271.5:c.602G>A | ENSP00000385476.1:p.Arg201His | |
| ENST00000456133.5:c.602G>A | ENSP00000410675.1:p.Arg201His | |
| ENST00000490733.1:n.367G>A | ||
| NM_002354.2:c.518G>A , LRG_215t1:c.518G>A | NP_002345.2:p.Arg173His | |
| NM_002354.3:c.518G>A MANE Select | NP_002345.2:p.Arg173His |