Linked Data
dbSNP Id:
rs747154483
ExAC:
7:150647016 T / A
gnomAD v2:
7-150647016-T-A
gnomAD v4:
7-150949928-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949928T>A , CM000669.2:g.150949928T>A | GRCh38 |
| NC_000007.13:g.150647016T>A , CM000669.1:g.150647016T>A | GRCh37 |
| NC_000007.12:g.150277949T>A | NCBI36 |
| NG_008916.1:g.32999A>T , LRG_288:g.32999A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1936A>T | ||
| ENST00000684241.1:n.3231+240A>T | ||
| ENST00000262186.10:c.2398+240A>T MANE Select | ENSP00000262186.5:n.2398+240A>T | |
| ENST00000330883.9:c.1378+240A>T | ENSP00000328531.4:n.1378+240A>T | |
| ENST00000262186.9:c.2398+240A>T | ENSP00000262186.5:n.2398+240A>T | |
| ENST00000330883.8:c.1378+240A>T | ENSP00000328531.4:n.1378+240A>T | |
| ENST00000430723.4:c.2290A>T | ENSP00000387657.4:p.Lys764Ter | |
| ENST00000461280.1:n.1925A>T | ||
| ENST00000473610.5:n.2270A>T | ||
| ENST00000532957.5:n.2861A>T | ||
| NM_000238.3:c.2398+240A>T , LRG_288t1:c.2398+240A>T | NP_000229.1:n.2398+240A>T | |
| NM_001204798.1:c.1618A>T | NP_001191727.1:p.Lys540Ter | |
| NM_172056.2:c.2638A>T , LRG_288t2:c.2638A>T | NP_742053.1:p.Lys880Ter | |
| NM_172057.2:c.1378+240A>T , LRG_288t3:c.1378+240A>T | NP_742054.1:n.1378+240A>T | |
| XM_011516185.1:c.2098+240A>T | XP_011514487.1:n.2098+240A>T | |
| XM_011516186.1:c.2398+240A>T | XP_011514488.1:n.2398+240A>T | |
| XM_011516185.2:c.2098+240A>T | XP_011514487.1:n.2098+240A>T | |
| XM_011516186.3:c.2398+240A>T | XP_011514488.1:n.2398+240A>T | |
| XM_017012195.1:c.2248+240A>T | XP_016867684.1:n.2248+240A>T | |
| XM_017012196.1:c.2221+240A>T | XP_016867685.1:n.2221+240A>T | |
| NM_000238.4:c.2398+240A>T MANE Select | NP_000229.1:n.2398+240A>T | |
| NM_001204798.2:c.1618A>T | NP_001191727.1:p.Lys540Ter | |
| NM_172057.3:c.1378+240A>T | NP_742054.1:n.1378+240A>T |