gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09441008 (NFE)
Genomes Max Group AF
0.09441008 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40094529C>T , CM000679.2:g.40094529C>T | GRCh38 |
| NC_000017.10:g.38250782C>T , CM000679.1:g.38250782C>T | GRCh37 |
| NC_000017.9:g.35504308C>T | NCBI36 |
| NG_023345.1:g.37337C>T | |
| NG_033084.1:g.11197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.1435-407G>A MANE Select | ENSP00000246672.3:n.1435-407G>A | |
| ENST00000246672.3:c.1435-407G>A | ENSP00000246672.3:n.1435-407G>A | |
| NM_021724.4:c.1435-407G>A | NP_068370.1:n.1435-407G>A | |
| NM_021724.5:c.1435-407G>A MANE Select | NP_068370.1:n.1435-407G>A |