Linked Data
ClinVar Variation Id:
180382
dbSNP Id:
rs730880118
ExAC:
7:150654440 C / T
gnomAD v2:
7-150654440-C-T
gnomAD v3:
7-150957352-C-T
gnomAD v4:
7-150957352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957352C>T , CM000669.2:g.150957352C>T | GRCh38 |
| NC_000007.13:g.150654440C>T , CM000669.1:g.150654440C>T | GRCh37 |
| NC_000007.12:g.150285373C>T | NCBI36 |
| NG_008916.1:g.25575G>A , LRG_288:g.25575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1900G>A | ||
| ENST00000262186.10:c.1067G>A MANE Select | ENSP00000262186.5:p.Arg356His | |
| ENST00000262186.9:c.1067G>A | ENSP00000262186.5:p.Arg356His | |
| ENST00000430723.4:c.719G>A | ENSP00000387657.4:p.Arg240His | |
| ENST00000532957.5:n.1290G>A | ||
| NM_000238.3:c.1067G>A , LRG_288t1:c.1067G>A | NP_000229.1:p.Arg356His | |
| NM_172056.2:c.1067G>A , LRG_288t2:c.1067G>A | NP_742053.1:p.Arg356His | |
| XM_011516185.1:c.767G>A | XP_011514487.1:p.Arg256His | |
| XM_011516186.1:c.1067G>A | XP_011514488.1:p.Arg356His | |
| XM_011516185.2:c.767G>A | XP_011514487.1:p.Arg256His | |
| XM_011516186.3:c.1067G>A | XP_011514488.1:p.Arg356His | |
| XM_017012195.1:c.917G>A | XP_016867684.1:p.Arg306His | |
| XM_017012196.1:c.890G>A | XP_016867685.1:p.Arg297His | |
| NM_000238.4:c.1067G>A MANE Select | NP_000229.1:p.Arg356His |