Linked Data
ClinVar Variation Id:
1787127
ClinVar RCV Id:
RCV002432760
dbSNP Id:
rs1249507965
gnomAD v3:
7-150950394-C-T
gnomAD v4:
7-150950394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950394C>T , CM000669.2:g.150950394C>T | GRCh38 |
| NC_000007.13:g.150647482C>T , CM000669.1:g.150647482C>T | GRCh37 |
| NC_000007.12:g.150278415C>T | NCBI36 |
| NG_008916.1:g.32533G>A , LRG_288:g.32533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1470G>A | ||
| ENST00000684241.1:n.3005G>A | ||
| ENST00000262186.10:c.2172G>A MANE Select | ENSP00000262186.5:p.Leu724= | |
| ENST00000330883.9:c.1152G>A | ENSP00000328531.4:p.Leu384= | |
| ENST00000262186.9:c.2172G>A | ENSP00000262186.5:p.Leu724= | |
| ENST00000330883.8:c.1152G>A | ENSP00000328531.4:p.Leu384= | |
| ENST00000430723.4:c.1824G>A | ENSP00000387657.4:p.Leu608= | |
| ENST00000461280.1:n.1459G>A | ||
| ENST00000473610.5:n.1804G>A | ||
| ENST00000532957.5:n.2395G>A | ||
| NM_000238.3:c.2172G>A , LRG_288t1:c.2172G>A | NP_000229.1:p.Leu724= | |
| NM_001204798.1:c.1152G>A | NP_001191727.1:p.Leu384= | |
| NM_172056.2:c.2172G>A , LRG_288t2:c.2172G>A | NP_742053.1:p.Leu724= | |
| NM_172057.2:c.1152G>A , LRG_288t3:c.1152G>A | NP_742054.1:p.Leu384= | |
| XM_011516185.1:c.1872G>A | XP_011514487.1:p.Leu624= | |
| XM_011516186.1:c.2172G>A | XP_011514488.1:p.Leu724= | |
| XM_011516185.2:c.1872G>A | XP_011514487.1:p.Leu624= | |
| XM_011516186.3:c.2172G>A | XP_011514488.1:p.Leu724= | |
| XM_017012195.1:c.2022G>A | XP_016867684.1:p.Leu674= | |
| XM_017012196.1:c.1995G>A | XP_016867685.1:p.Leu665= | |
| NM_000238.4:c.2172G>A MANE Select | NP_000229.1:p.Leu724= | |
| NM_001204798.2:c.1152G>A | NP_001191727.1:p.Leu384= | |
| NM_172057.3:c.1152G>A | NP_742054.1:p.Leu384= |