Linked Data
ClinVar Variation Id:
67525
ClinVar RCV Id:
RCV000058254
dbSNP Id:
rs199473502
gnomAD v4:
7-150958213-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958213G>C , CM000669.2:g.150958213G>C | GRCh38 |
| NC_000007.13:g.150655301G>C , CM000669.1:g.150655301G>C | GRCh37 |
| NC_000007.12:g.150286234G>C | NCBI36 |
| NG_008916.1:g.24714C>G , LRG_288:g.24714C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1595C>G | ||
| ENST00000262186.10:c.762C>G MANE Select | ENSP00000262186.5:p.His254Gln | |
| ENST00000262186.9:c.762C>G | ENSP00000262186.5:p.His254Gln | |
| ENST00000430723.4:c.414C>G | ENSP00000387657.4:p.His138Gln | |
| ENST00000532957.5:n.985C>G | ||
| NM_000238.3:c.762C>G , LRG_288t1:c.762C>G | NP_000229.1:p.His254Gln | |
| NM_172056.2:c.762C>G , LRG_288t2:c.762C>G | NP_742053.1:p.His254Gln | |
| XM_011516185.1:c.462C>G | XP_011514487.1:p.His154Gln | |
| XM_011516186.1:c.762C>G | XP_011514488.1:p.His254Gln | |
| XM_011516185.2:c.462C>G | XP_011514487.1:p.His154Gln | |
| XM_011516186.3:c.762C>G | XP_011514488.1:p.His254Gln | |
| XM_017012195.1:c.612C>G | XP_016867684.1:p.His204Gln | |
| XM_017012196.1:c.585C>G | XP_016867685.1:p.His195Gln | |
| NM_000238.4:c.762C>G MANE Select | NP_000229.1:p.His254Gln |