gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01590882 (SAS)
Genomes Max Group AF
0.01456029 (SAS)
Exomes Max Group AF
0.01583514 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150069857G>A , CM000667.2:g.150069857G>A | GRCh38 |
| NC_000005.9:g.149449420G>A , CM000667.1:g.149449420G>A | GRCh37 |
| NC_000005.8:g.149429613G>A | NCBI36 |
| NG_012303.1:g.48516C>T | |
| NG_012303.2:g.48516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.1510+16C>T MANE Select | ENSP00000501699.1:n.1510+16C>T | |
| ENST00000286301.7:c.1510+16C>T | ENSP00000286301.3:n.1510+16C>T | |
| ENST00000504875.5:c.1510+16C>T | ENSP00000422212.1:n.1510+16C>T | |
| NM_001288705.1:c.1510+16C>T | NP_001275634.1:n.1510+16C>T | |
| NM_005211.3:c.1510+16C>T | NP_005202.2:n.1510+16C>T | |
| NR_109969.1:n.1723+16C>T | ||
| NM_001288705.2:c.1510+16C>T | NP_001275634.1:n.1510+16C>T | |
| NM_001349736.1:c.1510+16C>T | NP_001336665.1:n.1510+16C>T | |
| NM_001288705.3:c.1510+16C>T MANE Select | NP_001275634.1:n.1510+16C>T | |
| NM_001375320.1:c.1510+16C>T | NP_001362249.1:n.1510+16C>T | |
| NM_001375321.1:c.1066+16C>T | NP_001362250.1:n.1066+16C>T | |
| NR_164679.1:n.1566+16C>T | ||
| NM_001349736.2:c.1510+16C>T | NP_001336665.1:n.1510+16C>T | |
| NM_005211.4:c.1510+16C>T | NP_005202.2:n.1510+16C>T | |
| NR_109969.2:n.1637+16C>T |