gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34937808 (SAS)
Genomes Max Group AF
0.34937808 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61106910G>A , CM000677.2:g.61106910G>A | GRCh38 |
| NC_000015.9:g.61399109G>A , CM000677.1:g.61399109G>A | GRCh37 |
| NC_000015.8:g.59186401G>A | NCBI36 |
| NG_029246.1:g.127394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+122143C>T MANE Select | ENSP00000335087.6:n.166+122143C>T | |
| ENST00000335670.10:c.166+122143C>T | ENSP00000335087.6:n.166+122143C>T | |
| ENST00000551975.5:c.81+122143C>T | ||
| ENST00000557822.5:n.191+122143C>T | ||
| ENST00000559145.1:n.173+122143C>T | ||
| ENST00000560300.1:n.182-65776C>T | ||
| ENST00000561093.1:n.179+122143C>T | ||
| NM_134261.2:c.166+122143C>T | NP_599023.1:n.166+122143C>T | |
| XM_011521878.1:c.-328+122143C>T | XP_011520180.1:n.-328+122143C>T | |
| XM_011521878.2:c.-328+122143C>T | XP_011520180.1:n.-328+122143C>T | |
| XR_002957760.1:n.7251-2682C>T | ||
| NM_134261.3:c.166+122143C>T MANE Select | NP_599023.1:n.166+122143C>T |