Linked Data
ClinVar Variation Id:
1754613
dbSNP Id:
rs752896394
ExAC:
7:150655400 G / T
gnomAD v2:
7-150655400-G-T
gnomAD v3:
7-150958312-G-T
gnomAD v4:
7-150958312-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958312G>T , CM000669.2:g.150958312G>T | GRCh38 |
| NC_000007.13:g.150655400G>T , CM000669.1:g.150655400G>T | GRCh37 |
| NC_000007.12:g.150286333G>T | NCBI36 |
| NG_008916.1:g.24615C>A , LRG_288:g.24615C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1496C>A | ||
| ENST00000262186.10:c.663C>A MANE Select | ENSP00000262186.5:p.His221Gln | |
| ENST00000262186.9:c.663C>A | ENSP00000262186.5:p.His221Gln | |
| ENST00000430723.4:c.315C>A | ENSP00000387657.4:p.His105Gln | |
| ENST00000532957.5:n.886C>A | ||
| NM_000238.3:c.663C>A , LRG_288t1:c.663C>A | NP_000229.1:p.His221Gln | |
| NM_172056.2:c.663C>A , LRG_288t2:c.663C>A | NP_742053.1:p.His221Gln | |
| XM_011516185.1:c.363C>A | XP_011514487.1:p.His121Gln | |
| XM_011516186.1:c.663C>A | XP_011514488.1:p.His221Gln | |
| XM_011516185.2:c.363C>A | XP_011514487.1:p.His121Gln | |
| XM_011516186.3:c.663C>A | XP_011514488.1:p.His221Gln | |
| XM_017012195.1:c.513C>A | XP_016867684.1:p.His171Gln | |
| XM_017012196.1:c.486C>A | XP_016867685.1:p.His162Gln | |
| NM_000238.4:c.663C>A MANE Select | NP_000229.1:p.His221Gln |