gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60164471 (NFE)
Genomes Max Group AF
0.60164471 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61159137C>T , CM000677.2:g.61159137C>T | GRCh38 |
| NC_000015.9:g.61451336C>T , CM000677.1:g.61451336C>T | GRCh37 |
| NC_000015.8:g.59238628C>T | NCBI36 |
| NG_029246.1:g.75167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+69916G>A MANE Select | ENSP00000335087.6:n.166+69916G>A | |
| ENST00000335670.10:c.166+69916G>A | ENSP00000335087.6:n.166+69916G>A | |
| ENST00000551975.5:c.81+69916G>A | ||
| ENST00000557822.5:n.191+69916G>A | ||
| ENST00000559145.1:n.173+69916G>A | ||
| ENST00000560300.1:n.181+69916G>A | ||
| ENST00000561093.1:n.179+69916G>A | ||
| NM_134261.2:c.166+69916G>A | NP_599023.1:n.166+69916G>A | |
| XM_011521878.1:c.-328+69916G>A | XP_011520180.1:n.-328+69916G>A | |
| XM_011521878.2:c.-328+69916G>A | XP_011520180.1:n.-328+69916G>A | |
| NM_134261.3:c.166+69916G>A MANE Select | NP_599023.1:n.166+69916G>A |