gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06159881 (NFE)
Genomes Max Group AF
0.06159881 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122473665C>T , CM000672.2:g.122473665C>T | GRCh38 |
| NC_000010.10:g.124233181C>T , CM000672.1:g.124233181C>T | GRCh37 |
| NC_000010.9:g.124223171C>T | NCBI36 |
| NG_011554.1:g.17141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.472+11541C>T MANE Select | ENSP00000357980.3:n.472+11541C>T | |
| ENST00000648167.1:c.154+14956C>T | ENSP00000498033.1:n.154+14956C>T | |
| ENST00000368984.7:c.472+11541C>T | ENSP00000357980.3:n.472+11541C>T | |
| NM_002775.4:c.472+11541C>T | NP_002766.1:n.472+11541C>T | |
| NM_002775.5:c.472+11541C>T MANE Select | NP_002766.1:n.472+11541C>T |