Linked Data
ClinVar Variation Id:
3073003
ClinVar RCV Id:
RCV004015017
dbSNP Id:
rs775056804
ExAC:
7:150654580 G / T
gnomAD v2:
7-150654580-G-T
gnomAD v4:
7-150957492-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957492G>T , CM000669.2:g.150957492G>T | GRCh38 |
| NC_000007.13:g.150654580G>T , CM000669.1:g.150654580G>T | GRCh37 |
| NC_000007.12:g.150285513G>T | NCBI36 |
| NG_008916.1:g.25435C>A , LRG_288:g.25435C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1760C>A | ||
| ENST00000262186.10:c.927C>A MANE Select | ENSP00000262186.5:p.His309Gln | |
| ENST00000262186.9:c.927C>A | ENSP00000262186.5:p.His309Gln | |
| ENST00000430723.4:c.579C>A | ENSP00000387657.4:p.His193Gln | |
| ENST00000532957.5:n.1150C>A | ||
| NM_000238.3:c.927C>A , LRG_288t1:c.927C>A | NP_000229.1:p.His309Gln | |
| NM_172056.2:c.927C>A , LRG_288t2:c.927C>A | NP_742053.1:p.His309Gln | |
| XM_011516185.1:c.627C>A | XP_011514487.1:p.His209Gln | |
| XM_011516186.1:c.927C>A | XP_011514488.1:p.His309Gln | |
| XM_011516185.2:c.627C>A | XP_011514487.1:p.His209Gln | |
| XM_011516186.3:c.927C>A | XP_011514488.1:p.His309Gln | |
| XM_017012195.1:c.777C>A | XP_016867684.1:p.His259Gln | |
| XM_017012196.1:c.750C>A | XP_016867685.1:p.His250Gln | |
| NM_000238.4:c.927C>A MANE Select | NP_000229.1:p.His309Gln |