gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027475 (NFE)
Genomes Max Group AF
0.00020665 (NFE)
Exomes Max Group AF
0.00027357 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166799C>T , CM000663.2:g.186166799C>T | GRCh38 |
| NC_000001.10:g.186135931C>T , CM000663.1:g.186135931C>T | GRCh37 |
| NC_000001.9:g.184402554C>T | NCBI36 |
| NG_011841.1:g.437249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15440-9C>T MANE Select | ENSP00000271588.4:n.15440-9C>T | |
| ENST00000271588.8:c.15440-9C>T | ENSP00000271588.4:n.15440-9C>T | |
| ENST00000475585.1:n.163-4538C>T | ||
| NM_031935.2:c.15440-9C>T | NP_114141.2:n.15440-9C>T | |
| XM_011510037.1:c.15155-9C>T | XP_011508339.1:n.15155-9C>T | |
| XM_011510038.1:c.15440-9C>T | XP_011508340.1:n.15440-9C>T | |
| XM_011510038.3:c.15440-9C>T | XP_011508340.1:n.15440-9C>T | |
| XM_017002437.1:c.13463-9C>T | XP_016857926.1:n.13463-9C>T | |
| NM_031935.3:c.15440-9C>T MANE Select | NP_114141.2:n.15440-9C>T |