Linked Data
ClinVar Variation Id:
2117712
ClinVar RCV Id:
RCV003039335
dbSNP Id:
rs1415444609
gnomAD v2:
7-150655221-C-T
gnomAD v4:
7-150958133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958133C>T , CM000669.2:g.150958133C>T | GRCh38 |
| NC_000007.13:g.150655221C>T , CM000669.1:g.150655221C>T | GRCh37 |
| NC_000007.12:g.150286154C>T | NCBI36 |
| NG_008916.1:g.24794G>A , LRG_288:g.24794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1675G>A | ||
| ENST00000262186.10:c.842G>A MANE Select | ENSP00000262186.5:p.Arg281His | |
| ENST00000262186.9:c.842G>A | ENSP00000262186.5:p.Arg281His | |
| ENST00000430723.4:c.494G>A | ENSP00000387657.4:p.Arg165His | |
| ENST00000532957.5:n.1065G>A | ||
| NM_000238.3:c.842G>A , LRG_288t1:c.842G>A | NP_000229.1:p.Arg281His | |
| NM_172056.2:c.842G>A , LRG_288t2:c.842G>A | NP_742053.1:p.Arg281His | |
| XM_011516185.1:c.542G>A | XP_011514487.1:p.Arg181His | |
| XM_011516186.1:c.842G>A | XP_011514488.1:p.Arg281His | |
| XM_011516185.2:c.542G>A | XP_011514487.1:p.Arg181His | |
| XM_011516186.3:c.842G>A | XP_011514488.1:p.Arg281His | |
| XM_017012195.1:c.692G>A | XP_016867684.1:p.Arg231His | |
| XM_017012196.1:c.665G>A | XP_016867685.1:p.Arg222His | |
| NM_000238.4:c.842G>A MANE Select | NP_000229.1:p.Arg281His |