gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5031534 (AFR)
Genomes Max Group AF
0.5031534 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81334384G>A , CM000677.2:g.81334384G>A | GRCh38 |
| NC_000015.9:g.81626725G>A , CM000677.1:g.81626725G>A | GRCh37 |
| NC_000015.8:g.79413780G>A | NCBI36 |
| NG_054935.1:g.44694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359440.6:c.2459+336C>T (TMC3) MANE Select | ENSP00000352413.5:n.2459+336C>T | |
| ENST00000359440.5:c.2459+336C>T (TMC3) | ENSP00000352413.5:n.2459+336C>T | |
| ENST00000558726.5:c.2462+336C>T (TMC3) | ENSP00000452681.1:n.2462+336C>T | |
| NM_001080532.1:c.2459+336C>T (TMC3) | NP_001074001.1:n.2459+336C>T | |
| NR_120365.1:n.426+1843G>A (TMC3-AS1) | ||
| NM_001080532.2:c.2459+336C>T (TMC3) | NP_001074001.1:n.2459+336C>T | |
| NM_001080532.3:c.2459+336C>T (TMC3) MANE Select | NP_001074001.1:n.2459+336C>T |