gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001734 (SAS)
Exomes Max Group AF
0.00001936 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102843046G>A , CM000673.2:g.102843046G>A | GRCh38 |
| NC_000011.9:g.102713777G>A , CM000673.1:g.102713777G>A | GRCh37 |
| NC_000011.8:g.102218987G>A | NCBI36 |
| NG_012100.1:g.5566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.106-130C>T MANE Select | ENSP00000299855.5:n.106-130C>T | |
| ENST00000299855.9:c.106-130C>T | ENSP00000299855.5:n.106-130C>T | |
| ENST00000524478.1:c.77-130C>T | ENSP00000435255.1:n.77-130C>T | |
| NM_002422.3:c.106-130C>T | NP_002413.1:n.106-130C>T | |
| NM_002422.4:c.106-130C>T | NP_002413.1:n.106-130C>T | |
| NM_002422.5:c.106-130C>T MANE Select | NP_002413.1:n.106-130C>T |