Linked Data
dbSNP Id:
rs11174478
gnomAD v2:
12-40354244-G-A
gnomAD v3:
12-39960442-G-A
gnomAD v4:
12-39960442-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39960442G>A , CM000674.2:g.39960442G>A | GRCh38 |
| NC_000012.11:g.40354244G>A , CM000674.1:g.40354244G>A | GRCh37 |
| NC_000012.10:g.38640511G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280871.9:c.926-9077C>T MANE Select | ENSP00000280871.4:n.926-9077C>T | |
| ENST00000280871.8:c.926-9077C>T | ENSP00000280871.4:n.926-9077C>T | |
| ENST00000380858.1:c.926-9077C>T | ENSP00000370239.1:n.926-9077C>T | |
| NM_052885.3:c.926-9077C>T | NP_443117.3:n.926-9077C>T | |
| XM_011537847.1:c.926-9077C>T | XP_011536149.1:n.926-9077C>T | |
| XM_011537848.1:c.926-9077C>T | XP_011536150.1:n.926-9077C>T | |
| XM_011537849.1:c.926-9077C>T | XP_011536151.1:n.926-9077C>T | |
| XM_011537850.1:c.926-9077C>T | XP_011536152.1:n.926-9077C>T | |
| XM_011537847.2:c.926-9077C>T | XP_011536149.1:n.926-9077C>T | |
| XM_011537849.2:c.926-9077C>T | XP_011536151.1:n.926-9077C>T | |
| XM_011537850.3:c.926-9077C>T | XP_011536152.1:n.926-9077C>T | |
| XM_017018764.1:c.359-9077C>T | XP_016874253.1:n.359-9077C>T | |
| XM_017018765.1:c.359-9077C>T | XP_016874254.1:n.359-9077C>T | |
| XM_017018766.1:c.206-9077C>T | XP_016874255.1:n.206-9077C>T | |
| XR_001748567.2:n.1203-9077C>T | ||
| XR_001748568.1:n.1203-9077C>T | ||
| NM_052885.4:c.926-9077C>T MANE Select | NP_443117.3:n.926-9077C>T |