Linked Data
ClinVar Variation Id:
527047
ClinVar RCV Id:
RCV000631764
dbSNP Id:
rs775056804
gnomAD v4:
7-150957492-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957492G>A , CM000669.2:g.150957492G>A | GRCh38 |
| NC_000007.13:g.150654580G>A , CM000669.1:g.150654580G>A | GRCh37 |
| NC_000007.12:g.150285513G>A | NCBI36 |
| NG_008916.1:g.25435C>T , LRG_288:g.25435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1760C>T | ||
| ENST00000262186.10:c.927C>T MANE Select | ENSP00000262186.5:p.His309= | |
| ENST00000262186.9:c.927C>T | ENSP00000262186.5:p.His309= | |
| ENST00000430723.4:c.579C>T | ENSP00000387657.4:p.His193= | |
| ENST00000532957.5:n.1150C>T | ||
| NM_000238.3:c.927C>T , LRG_288t1:c.927C>T | NP_000229.1:p.His309= | |
| NM_172056.2:c.927C>T , LRG_288t2:c.927C>T | NP_742053.1:p.His309= | |
| XM_011516185.1:c.627C>T | XP_011514487.1:p.His209= | |
| XM_011516186.1:c.927C>T | XP_011514488.1:p.His309= | |
| XM_011516185.2:c.627C>T | XP_011514487.1:p.His209= | |
| XM_011516186.3:c.927C>T | XP_011514488.1:p.His309= | |
| XM_017012195.1:c.777C>T | XP_016867684.1:p.His259= | |
| XM_017012196.1:c.750C>T | XP_016867685.1:p.His250= | |
| NM_000238.4:c.927C>T MANE Select | NP_000229.1:p.His309= |