Linked Data
dbSNP Id:
rs12472274
gnomAD v2:
2-239095422-G-A
gnomAD v3:
2-238186781-G-A
gnomAD v4:
2-238186781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238186781G>A , CM000664.2:g.238186781G>A | GRCh38 |
| NC_000002.11:g.239095422G>A , CM000664.1:g.239095422G>A | GRCh37 |
| NC_000002.10:g.238760161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254654.8:c.425+1350C>T MANE Select | ENSP00000254654.3:n.425+1350C>T | |
| ENST00000254654.7:c.425+1350C>T | ENSP00000254654.3:n.425+1350C>T | |
| ENST00000457149.1:c.419+1350C>T | ENSP00000395301.1:n.419+1350C>T | |
| ENST00000463129.5:n.973+1350C>T | ||
| ENST00000466468.5:n.277C>T | ||
| ENST00000479400.1:n.464+1350C>T | ||
| ENST00000612675.4:c.425+1350C>T | ENSP00000477533.1:n.425+1350C>T | |
| ENST00000622223.4:c.179-2668C>T | ENSP00000477542.1:n.179-2668C>T | |
| NM_030768.2:c.425+1350C>T | NP_110395.1:n.425+1350C>T | |
| XM_005246106.1:c.65+1350C>T | XP_005246163.1:n.65+1350C>T | |
| XM_006712784.1:c.221+1350C>T | XP_006712847.1:n.221+1350C>T | |
| XM_011511946.1:c.30-1494C>T | XP_011510248.1:n.30-1494C>T | |
| XR_923033.1:n.574+1350C>T | ||
| XM_011511946.2:c.30-1494C>T | XP_011510248.1:n.30-1494C>T | |
| XM_017005056.2:c.65+1350C>T | XP_016860545.1:n.65+1350C>T | |
| XM_017005057.1:c.65+1350C>T | XP_016860546.1:n.65+1350C>T | |
| XM_017005058.1:c.30-1494C>T | XP_016860547.1:n.30-1494C>T | |
| XM_024453162.1:c.65+1350C>T | XP_024308930.1:n.65+1350C>T | |
| NM_030768.3:c.425+1350C>T MANE Select | NP_110395.1:n.425+1350C>T |