gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16270241 (EAS)
Genomes Max Group AF
0.16270241 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30945130G>A , CM000668.2:g.30945130G>A | GRCh38 |
| NC_000006.11:g.30912907G>A , CM000668.1:g.30912907G>A | GRCh37 |
| NC_000006.10:g.31020886G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462446.6:c.83-3417G>A (MUCL3) MANE Select | ENSP00000417182.1:n.83-3417G>A | |
| ENST00000636043.1:c.284-3417G>A (MUCL3) | ENSP00000490368.1:n.284-3417G>A | |
| ENST00000304311.3:c.83-3417G>A (MUCL3) | ENSP00000305948.3:n.83-3417G>A | |
| ENST00000462446.5:c.83-3417G>A (MUCL3) | ENSP00000417182.1:n.83-3417G>A | |
| ENST00000634371.1:c.-9+7232C>T (SFTA2) | ENSP00000489572.1:n.-9+7232C>T | |
| NM_080870.3:c.83-3417G>A (MUCL3) | NP_543146.2:n.83-3417G>A | |
| NM_080870.4:c.83-3417G>A (MUCL3) MANE Select | NP_543146.2:n.83-3417G>A |