Linked Data
ClinVar Variation Id:
393018
dbSNP Id:
rs201252809
ExAC:
2:73717497 G / A
gnomAD v2:
2-73717497-G-A
gnomAD v3:
2-73490370-G-A
gnomAD v4:
2-73490370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490370G>A , CM000664.2:g.73490370G>A | GRCh38 |
| NC_000002.11:g.73717497G>A , CM000664.1:g.73717497G>A | GRCh37 |
| NC_000002.10:g.73571005G>A | NCBI36 |
| NG_011690.1:g.109618G>A , LRG_741:g.109618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.8030G>A | ENSP00000507671.1:p.Arg2677His | |
| ENST00000682801.1:c.8030G>A | ENSP00000507862.1:p.Arg2677His | |
| ENST00000682859.1:c.8030G>A | ENSP00000508222.1:p.Arg2677His | |
| ENST00000683791.1:c.1422G>A | ||
| ENST00000684460.1:c.5482G>A | ||
| ENST00000684548.1:c.8030G>A | ENSP00000507421.1:p.Arg2677His | |
| ENST00000684590.1:c.2477G>A | ENSP00000507376.1:p.Arg826His | |
| ENST00000684656.1:c.5482G>A | ||
| ENST00000613296.6:c.8411G>A MANE Select | ENSP00000482968.1:p.Arg2804His | |
| ENST00000651434.1:c.896-29405G>A | ||
| ENST00000423048.5:c.3030+212G>A | ENSP00000399833.1:n.3030+212G>A | |
| ENST00000484298.5:c.8285G>A | ENSP00000478155.1:p.Arg2762His | |
| ENST00000613296.4:c.8411G>A | ENSP00000482968.1:p.Arg2804His | |
| ENST00000614410.4:c.8411G>A | ENSP00000479094.1:p.Arg2804His | |
| ENST00000620466.4:n.2214G>A | ||
| NM_015120.4:c.8414G>A , LRG_741t1:c.8414G>A | NP_055935.4:p.Arg2805His | |
| NM_001378454.1:c.8411G>A MANE Select | NP_001365383.1:p.Arg2804His |