Linked Data
ClinVar Variation Id:
405348
ClinVar RCV Id:
RCV000475454
dbSNP Id:
rs1060500667
gnomAD v2:
7-150652587-G-A
gnomAD v3:
7-150955499-G-A
gnomAD v4:
7-150955499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150955499G>A , CM000669.2:g.150955499G>A | GRCh38 |
| NC_000007.13:g.150652587G>A , CM000669.1:g.150652587G>A | GRCh37 |
| NC_000007.12:g.150283520G>A | NCBI36 |
| NG_008916.1:g.27428C>T , LRG_288:g.27428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.323C>T | ||
| ENST00000684241.1:n.1961+1792C>T | ||
| ENST00000262186.10:c.1128+1792C>T MANE Select | ENSP00000262186.5:n.1128+1792C>T | |
| ENST00000330883.9:c.5C>T | ENSP00000328531.4:p.Ala2Val | |
| ENST00000262186.9:c.1128+1792C>T | ENSP00000262186.5:n.1128+1792C>T | |
| ENST00000330883.8:c.5C>T | ENSP00000328531.4:p.Ala2Val | |
| ENST00000430723.4:c.780+1792C>T | ENSP00000387657.4:n.780+1792C>T | |
| ENST00000461280.1:n.312C>T | ||
| ENST00000473610.5:n.330C>T | ||
| ENST00000532957.5:n.1351+1792C>T | ||
| NM_000238.3:c.1128+1792C>T , LRG_288t1:c.1128+1792C>T | NP_000229.1:n.1128+1792C>T | |
| NM_001204798.1:c.5C>T | NP_001191727.1:p.Ala2Val | |
| NM_172056.2:c.1128+1792C>T , LRG_288t2:c.1128+1792C>T | NP_742053.1:n.1128+1792C>T | |
| NM_172057.2:c.5C>T , LRG_288t3:c.5C>T | NP_742054.1:p.Ala2Val | |
| XM_011516185.1:c.828+1792C>T | XP_011514487.1:n.828+1792C>T | |
| XM_011516186.1:c.1128+1792C>T | XP_011514488.1:n.1128+1792C>T | |
| XM_011516185.2:c.828+1792C>T | XP_011514487.1:n.828+1792C>T | |
| XM_011516186.3:c.1128+1792C>T | XP_011514488.1:n.1128+1792C>T | |
| XM_017012195.1:c.978+1792C>T | XP_016867684.1:n.978+1792C>T | |
| XM_017012196.1:c.951+1792C>T | XP_016867685.1:n.951+1792C>T | |
| NM_000238.4:c.1128+1792C>T MANE Select | NP_000229.1:n.1128+1792C>T | |
| NM_001204798.2:c.5C>T | NP_001191727.1:p.Ala2Val | |
| NM_172057.3:c.5C>T | NP_742054.1:p.Ala2Val |