gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20136981 (AMR)
Genomes Max Group AF
0.20136981 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61188522C>T , CM000677.2:g.61188522C>T | GRCh38 |
| NC_000015.9:g.61480721C>T , CM000677.1:g.61480721C>T | GRCh37 |
| NC_000015.8:g.59268013C>T | NCBI36 |
| NG_029246.1:g.45782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+40531G>A MANE Select | ENSP00000335087.6:n.166+40531G>A | |
| ENST00000335670.10:c.166+40531G>A | ENSP00000335087.6:n.166+40531G>A | |
| ENST00000551975.5:c.81+40531G>A | ||
| ENST00000557822.5:n.191+40531G>A | ||
| ENST00000558904.2:c.104-12066G>A | ENSP00000484955.1:n.104-12066G>A | |
| ENST00000559145.1:n.173+40531G>A | ||
| ENST00000560300.1:n.181+40531G>A | ||
| ENST00000561093.1:n.179+40531G>A | ||
| NM_134261.2:c.166+40531G>A | NP_599023.1:n.166+40531G>A | |
| XM_011521878.1:c.-328+40531G>A | XP_011520180.1:n.-328+40531G>A | |
| XR_429538.2:n.415+5440C>T | ||
| XR_932316.1:n.415+5440C>T | ||
| XR_932317.1:n.414+5440C>T | ||
| XR_932318.1:n.418+5440C>T | ||
| XR_932319.1:n.624+5440C>T | ||
| XR_932320.1:n.411+5440C>T | ||
| XM_011521878.2:c.-328+40531G>A | XP_011520180.1:n.-328+40531G>A | |
| NM_134261.3:c.166+40531G>A MANE Select | NP_599023.1:n.166+40531G>A |