Linked Data
ClinVar Variation Id:
922598
ClinVar RCV Id:
RCV001843137
dbSNP Id:
rs567628192
ExAC:
7:150648118 C / T
gnomAD v2:
7-150648118-C-T
gnomAD v3:
7-150951030-C-T
gnomAD v4:
7-150951030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951030C>T , CM000669.2:g.150951030C>T | GRCh38 |
| NC_000007.13:g.150648118C>T , CM000669.1:g.150648118C>T | GRCh37 |
| NC_000007.12:g.150279051C>T | NCBI36 |
| NG_008916.1:g.31897G>A , LRG_288:g.31897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1334G>A | ||
| ENST00000683359.1:n.160G>A | ||
| ENST00000684241.1:n.2869G>A | ||
| ENST00000262186.10:c.2036G>A MANE Select | ENSP00000262186.5:p.Arg679Gln | |
| ENST00000330883.9:c.1016G>A | ENSP00000328531.4:p.Arg339Gln | |
| ENST00000262186.9:c.2036G>A | ENSP00000262186.5:p.Arg679Gln | |
| ENST00000330883.8:c.1016G>A | ENSP00000328531.4:p.Arg339Gln | |
| ENST00000430723.4:c.1688G>A | ENSP00000387657.4:p.Arg563Gln | |
| ENST00000461280.1:n.1323G>A | ||
| ENST00000473610.5:n.1668G>A | ||
| ENST00000532957.5:n.2259G>A | ||
| NM_000238.3:c.2036G>A , LRG_288t1:c.2036G>A | NP_000229.1:p.Arg679Gln | |
| NM_001204798.1:c.1016G>A | NP_001191727.1:p.Arg339Gln | |
| NM_172056.2:c.2036G>A , LRG_288t2:c.2036G>A | NP_742053.1:p.Arg679Gln | |
| NM_172057.2:c.1016G>A , LRG_288t3:c.1016G>A | NP_742054.1:p.Arg339Gln | |
| XM_011516185.1:c.1736G>A | XP_011514487.1:p.Arg579Gln | |
| XM_011516186.1:c.2036G>A | XP_011514488.1:p.Arg679Gln | |
| XM_011516185.2:c.1736G>A | XP_011514487.1:p.Arg579Gln | |
| XM_011516186.3:c.2036G>A | XP_011514488.1:p.Arg679Gln | |
| XM_017012195.1:c.1886G>A | XP_016867684.1:p.Arg629Gln | |
| XM_017012196.1:c.1859G>A | XP_016867685.1:p.Arg620Gln | |
| NM_000238.4:c.2036G>A MANE Select | NP_000229.1:p.Arg679Gln | |
| NM_001204798.2:c.1016G>A | NP_001191727.1:p.Arg339Gln | |
| NM_172057.3:c.1016G>A | NP_742054.1:p.Arg339Gln |