Linked Data
ClinVar Variation Id:
362554
dbSNP Id:
rs201567623
ExAC:
8:22020220 A / G
gnomAD v2:
8-22020220-A-G
gnomAD v3:
8-22162707-A-G
gnomAD v4:
8-22162707-A-G
PubMed:
PMID:25657025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22162707A>G , CM000670.2:g.22162707A>G | GRCh38 |
| NC_000008.10:g.22020220A>G , CM000670.1:g.22020220A>G | GRCh37 |
| NC_000008.9:g.22076165A>G | NCBI36 |
| NG_016968.1:g.6037A>G | |
| NG_029659.1:g.2568A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679463.1:c.176A>G MANE Select | ENSP00000505152.1:p.His59Arg | |
| ENST00000318561.7:c.176A>G | ENSP00000316152.3:p.His59Arg | |
| ENST00000437090.6:c.176A>G | ENSP00000407931.2:p.His59Arg | |
| ENST00000518615.2:n.196A>G | ||
| ENST00000520605.5:c.43-373A>G | ENSP00000430266.1:n.43-373A>G | |
| ENST00000521315.5:c.176A>G | ENSP00000430410.1:p.His59Arg | |
| ENST00000522109.5:c.176A>G | ENSP00000429496.1:p.His59Arg | |
| ENST00000523296.1:c.43-373A>G | ENSP00000429619.1:n.43-373A>G | |
| ENST00000524255.5:c.43-373A>G | ENSP00000429552.1:n.43-373A>G | |
| ENST00000524318.3:n.968A>G | ||
| NM_001172357.1:c.176A>G | NP_001165828.1:p.His59Arg | |
| NM_001172410.1:c.176A>G | NP_001165881.1:p.His59Arg | |
| NM_003018.3:c.176A>G | NP_003009.2:p.His59Arg | |
| XM_006716379.2:c.176A>G | XP_006716442.1:p.His59Arg | |
| XM_006716380.2:c.176A>G | XP_006716443.1:p.His59Arg | |
| XM_011544612.1:c.43-373A>G | XP_011542914.1:n.43-373A>G | |
| XM_011544613.1:c.43-373A>G | XP_011542915.1:n.43-373A>G | |
| NM_001317778.1:c.176A>G | NP_001304707.1:p.His59Arg | |
| NM_001317779.1:c.43-373A>G | NP_001304708.1:n.43-373A>G | |
| NM_001317780.1:c.176A>G | NP_001304709.1:p.His59Arg | |
| XM_011544613.3:c.43-373A>G | XP_011542915.1:n.43-373A>G | |
| NM_001172357.2:c.176A>G | NP_001165828.1:p.His59Arg | |
| NM_001172410.2:c.176A>G | NP_001165881.1:p.His59Arg | |
| NM_001317778.2:c.176A>G MANE Select | NP_001304707.1:p.His59Arg | |
| NM_001317779.2:c.43-373A>G | NP_001304708.1:n.43-373A>G | |
| NM_001317780.2:c.176A>G | NP_001304709.1:p.His59Arg | |
| NM_003018.4:c.176A>G | NP_003009.2:p.His59Arg | |
| NM_001385653.1:c.176A>G | NP_001372582.1:p.His59Arg | |
| NM_001385654.1:c.176A>G | NP_001372583.1:p.His59Arg | |
| NM_001385655.1:c.176A>G | NP_001372584.1:p.His59Arg | |
| NM_001385656.1:c.176A>G | NP_001372585.1:p.His59Arg | |
| NM_001385657.1:c.176A>G | NP_001372586.1:p.His59Arg | |
| NM_001385658.1:c.176A>G | NP_001372587.1:p.His59Arg | |
| NM_001385659.1:c.176A>G | NP_001372588.1:p.His59Arg | |
| NM_001385660.1:c.43-373A>G | NP_001372589.1:n.43-373A>G |