Linked Data
ClinVar Variation Id:
1057001
ClinVar RCV Id:
RCV001365911
dbSNP Id:
rs1271246335
gnomAD v2:
7-150655323-T-C
gnomAD v3:
7-150958235-T-C
gnomAD v4:
7-150958235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958235T>C , CM000669.2:g.150958235T>C | GRCh38 |
| NC_000007.13:g.150655323T>C , CM000669.1:g.150655323T>C | GRCh37 |
| NC_000007.12:g.150286256T>C | NCBI36 |
| NG_008916.1:g.24692A>G , LRG_288:g.24692A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1573A>G | ||
| ENST00000262186.10:c.740A>G MANE Select | ENSP00000262186.5:p.Gln247Arg | |
| ENST00000262186.9:c.740A>G | ENSP00000262186.5:p.Gln247Arg | |
| ENST00000430723.4:c.392A>G | ENSP00000387657.4:p.Gln131Arg | |
| ENST00000532957.5:n.963A>G | ||
| NM_000238.3:c.740A>G , LRG_288t1:c.740A>G | NP_000229.1:p.Gln247Arg | |
| NM_172056.2:c.740A>G , LRG_288t2:c.740A>G | NP_742053.1:p.Gln247Arg | |
| XM_011516185.1:c.440A>G | XP_011514487.1:p.Gln147Arg | |
| XM_011516186.1:c.740A>G | XP_011514488.1:p.Gln247Arg | |
| XM_011516185.2:c.440A>G | XP_011514487.1:p.Gln147Arg | |
| XM_011516186.3:c.740A>G | XP_011514488.1:p.Gln247Arg | |
| XM_017012195.1:c.590A>G | XP_016867684.1:p.Gln197Arg | |
| XM_017012196.1:c.563A>G | XP_016867685.1:p.Gln188Arg | |
| NM_000238.4:c.740A>G MANE Select | NP_000229.1:p.Gln247Arg |