Linked Data
ClinVar Variation Id:
67436
dbSNP Id:
rs199473439
gnomAD v2:
7-150644894-C-T
gnomAD v3:
7-150947806-C-T
gnomAD v4:
7-150947806-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947806C>T , CM000669.2:g.150947806C>T | GRCh38 |
| NC_000007.13:g.150644894C>T , CM000669.1:g.150644894C>T | GRCh37 |
| NC_000007.12:g.150275827C>T | NCBI36 |
| NG_008916.1:g.35121G>A , LRG_288:g.35121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3598G>A | ||
| ENST00000262186.10:c.2765G>A MANE Select | ENSP00000262186.5:p.Arg922Gln | |
| ENST00000330883.9:c.1745G>A | ENSP00000328531.4:p.Arg582Gln | |
| ENST00000262186.9:c.2765G>A | ENSP00000262186.5:p.Arg922Gln | |
| ENST00000330883.8:c.1745G>A | ENSP00000328531.4:p.Arg582Gln | |
| NM_000238.3:c.2765G>A , LRG_288t1:c.2765G>A | NP_000229.1:p.Arg922Gln | |
| NM_172057.2:c.1745G>A , LRG_288t3:c.1745G>A | NP_742054.1:p.Arg582Gln | |
| XM_011516185.1:c.2465G>A | XP_011514487.1:p.Arg822Gln | |
| XM_011516186.1:c.2693-115G>A | XP_011514488.1:n.2693-115G>A | |
| XM_011516185.2:c.2465G>A | XP_011514487.1:p.Arg822Gln | |
| XM_011516186.3:c.2693-115G>A | XP_011514488.1:n.2693-115G>A | |
| XM_017012195.1:c.2615G>A | XP_016867684.1:p.Arg872Gln | |
| XM_017012196.1:c.2588G>A | XP_016867685.1:p.Arg863Gln | |
| NM_000238.4:c.2765G>A MANE Select | NP_000229.1:p.Arg922Gln | |
| NM_172057.3:c.1745G>A | NP_742054.1:p.Arg582Gln |