Linked Data
dbSNP Id:
rs1377570479
gnomAD v2:
18-50912257-C-T
gnomAD v3:
18-53385887-C-T
gnomAD v4:
18-53385887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53385887C>T , CM000680.2:g.53385887C>T | GRCh38 |
| NC_000018.9:g.50912257C>T , CM000680.1:g.50912257C>T | GRCh37 |
| NC_000018.8:g.49166255C>T | NCBI36 |
| NG_013341.1:g.1050716C>T | |
| NG_013341.2:g.1050716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.2360-156C>T MANE Select | ENSP00000389140.2:n.2360-156C>T | |
| ENST00000304775.12:c.2161-156C>T | ||
| ENST00000412726.5:c.2291-156C>T | ENSP00000397322.2:n.2291-156C>T | |
| ENST00000442544.6:c.2360-156C>T | ENSP00000389140.2:n.2360-156C>T | |
| ENST00000581580.5:c.1325-156C>T | ENSP00000464582.1:n.1325-156C>T | |
| NM_005215.3:c.2360-156C>T | NP_005206.2:n.2360-156C>T | |
| XM_011525843.1:c.2360-156C>T | XP_011524145.1:n.2360-156C>T | |
| XM_011525844.1:c.1325-156C>T | XP_011524146.1:n.1325-156C>T | |
| XM_011525845.1:c.2360-156C>T | XP_011524147.1:n.2360-156C>T | |
| XM_011525846.1:c.2360-156C>T | XP_011524148.1:n.2360-156C>T | |
| XM_011525844.2:c.1325-156C>T | XP_011524146.1:n.1325-156C>T | |
| XM_017025568.1:c.2360-156C>T | XP_016881057.1:n.2360-156C>T | |
| XM_017025569.1:c.2360-156C>T | XP_016881058.1:n.2360-156C>T | |
| XM_017025570.1:c.1325-156C>T | XP_016881059.1:n.1325-156C>T | |
| NM_005215.4:c.2360-156C>T MANE Select | NP_005206.2:n.2360-156C>T |