gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46919332 (AFR)
Genomes Max Group AF
0.46919332 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11759433C>T , CM000680.2:g.11759433C>T | GRCh38 |
| NC_000018.9:g.11759432C>T , CM000680.1:g.11759432C>T | GRCh37 |
| NC_000018.8:g.11749432C>T | NCBI36 |
| NG_033866.1:g.75419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334049.11:c.624+5488C>T MANE Select | ENSP00000334051.5:n.624+5488C>T | |
| ENST00000423027.8:c.393+5488C>T MANE Plus Clinical | ENSP00000408489.2:n.393+5488C>T | |
| ENST00000269162.9:c.393+5488C>T | ENSP00000269162.4:n.393+5488C>T | |
| ENST00000334049.10:c.624+5488C>T | ENSP00000334051.5:n.624+5488C>T | |
| ENST00000423027.7:c.393+5488C>T | ENSP00000408489.2:n.393+5488C>T | |
| ENST00000535121.5:c.393+5488C>T | ENSP00000439023.1:n.393+5488C>T | |
| ENST00000585642.5:c.210+5488C>T | ENSP00000467345.1:n.210+5488C>T | |
| ENST00000590228.1:c.105+5488C>T | ENSP00000467709.1:n.105+5488C>T | |
| ENST00000590972.1:n.217+5488C>T | ||
| NM_001142339.2:c.393+5488C>T | NP_001135811.1:n.393+5488C>T | |
| NM_001261443.1:c.393+5488C>T | NP_001248372.1:n.393+5488C>T | |
| NM_182978.3:c.624+5488C>T | NP_892023.1:n.624+5488C>T | |
| XM_006722323.2:c.393+5488C>T | XP_006722386.1:n.393+5488C>T | |
| XM_006722324.1:c.624+5488C>T | XP_006722387.1:n.624+5488C>T | |
| XM_011525654.1:c.393+5488C>T | XP_011523956.1:n.393+5488C>T | |
| XM_006722324.3:c.624+5488C>T | XP_006722387.1:n.624+5488C>T | |
| XM_024451164.1:c.393+5488C>T | XP_024306932.1:n.393+5488C>T | |
| NM_182978.4:c.624+5488C>T MANE Select | NP_892023.1:n.624+5488C>T | |
| NM_001369387.1:c.393+5488C>T MANE Plus Clinical | NP_001356316.1:n.393+5488C>T | |
| NM_001142339.3:c.393+5488C>T | NP_001135811.1:n.393+5488C>T | |
| NM_001261443.2:c.393+5488C>T | NP_001248372.1:n.393+5488C>T |