gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39266426 (AMR)
Genomes Max Group AF
0.39266426 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5000094C>T , CM000682.2:g.5000094C>T | GRCh38 |
| NC_000020.10:g.4980740C>T , CM000682.1:g.4980740C>T | GRCh37 |
| NC_000020.9:g.4928740C>T | NCBI36 |
| NG_029959.1:g.6406G>A | |
| NG_029959.2:g.15200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338244.6:c.-282+1312G>A MANE Select | ENSP00000344322.1:n.-282+1312G>A | |
| ENST00000338244.5:c.-282+1312G>A | ENSP00000344322.1:n.-282+1312G>A | |
| ENST00000379333.5:c.-282+10088G>A | ENSP00000368637.1:n.-282+10088G>A | |
| ENST00000468355.5:n.89+10088G>A | ||
| NM_005116.5:c.-282+1312G>A | NP_005107.4:n.-282+1312G>A | |
| NM_203327.1:c.-282+10088G>A | NP_976072.1:n.-282+10088G>A | |
| XM_011529414.1:c.-278+1312G>A | XP_011527716.1:n.-278+1312G>A | |
| XM_011529417.1:c.-155+1312G>A | XP_011527719.1:n.-155+1312G>A | |
| NM_005116.6:c.-282+1312G>A MANE Select | NP_005107.4:n.-282+1312G>A | |
| NM_203327.2:c.-282+10088G>A | NP_976072.1:n.-282+10088G>A |