Linked Data
dbSNP Id:
rs1441154141
gnomAD v2:
7-150647063-G-A
gnomAD v3:
7-150949975-G-A
gnomAD v4:
7-150949975-G-A
COSMIC:
COSM5482104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949975G>A , CM000669.2:g.150949975G>A | GRCh38 |
| NC_000007.13:g.150647063G>A , CM000669.1:g.150647063G>A | GRCh37 |
| NC_000007.12:g.150277996G>A | NCBI36 |
| NG_008916.1:g.32952C>T , LRG_288:g.32952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1889C>T | ||
| ENST00000684241.1:n.3231+193C>T | ||
| ENST00000262186.10:c.2398+193C>T MANE Select | ENSP00000262186.5:n.2398+193C>T | |
| ENST00000330883.9:c.1378+193C>T | ENSP00000328531.4:n.1378+193C>T | |
| ENST00000262186.9:c.2398+193C>T | ENSP00000262186.5:n.2398+193C>T | |
| ENST00000330883.8:c.1378+193C>T | ENSP00000328531.4:n.1378+193C>T | |
| ENST00000430723.4:c.2243C>T | ENSP00000387657.4:p.Ala748Val | |
| ENST00000461280.1:n.1878C>T | ||
| ENST00000473610.5:n.2223C>T | ||
| ENST00000532957.5:n.2814C>T | ||
| NM_000238.3:c.2398+193C>T , LRG_288t1:c.2398+193C>T | NP_000229.1:n.2398+193C>T | |
| NM_001204798.1:c.1571C>T | NP_001191727.1:p.Ala524Val | |
| NM_172056.2:c.2591C>T , LRG_288t2:c.2591C>T | NP_742053.1:p.Ala864Val | |
| NM_172057.2:c.1378+193C>T , LRG_288t3:c.1378+193C>T | NP_742054.1:n.1378+193C>T | |
| XM_011516185.1:c.2098+193C>T | XP_011514487.1:n.2098+193C>T | |
| XM_011516186.1:c.2398+193C>T | XP_011514488.1:n.2398+193C>T | |
| XM_011516185.2:c.2098+193C>T | XP_011514487.1:n.2098+193C>T | |
| XM_011516186.3:c.2398+193C>T | XP_011514488.1:n.2398+193C>T | |
| XM_017012195.1:c.2248+193C>T | XP_016867684.1:n.2248+193C>T | |
| XM_017012196.1:c.2221+193C>T | XP_016867685.1:n.2221+193C>T | |
| NM_000238.4:c.2398+193C>T MANE Select | NP_000229.1:n.2398+193C>T | |
| NM_001204798.2:c.1571C>T | NP_001191727.1:p.Ala524Val | |
| NM_172057.3:c.1378+193C>T | NP_742054.1:n.1378+193C>T |