gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62125795 (EAS)
Genomes Max Group AF
0.62125795 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61116504G>A , CM000677.2:g.61116504G>A | GRCh38 |
| NC_000015.9:g.61408703G>A , CM000677.1:g.61408703G>A | GRCh37 |
| NC_000015.8:g.59195995G>A | NCBI36 |
| NG_029246.1:g.117800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+112549C>T MANE Select | ENSP00000335087.6:n.166+112549C>T | |
| ENST00000335670.10:c.166+112549C>T | ENSP00000335087.6:n.166+112549C>T | |
| ENST00000551975.5:c.81+112549C>T | ||
| ENST00000557822.5:n.191+112549C>T | ||
| ENST00000559145.1:n.173+112549C>T | ||
| ENST00000560300.1:n.182-75370C>T | ||
| ENST00000561093.1:n.179+112549C>T | ||
| NM_134261.2:c.166+112549C>T | NP_599023.1:n.166+112549C>T | |
| XM_011521878.1:c.-328+112549C>T | XP_011520180.1:n.-328+112549C>T | |
| XM_011521878.2:c.-328+112549C>T | XP_011520180.1:n.-328+112549C>T | |
| XR_002957760.1:n.2765C>T | ||
| NM_134261.3:c.166+112549C>T MANE Select | NP_599023.1:n.166+112549C>T |