gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79591631 (EAS)
Genomes Max Group AF
0.79591631 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151580274C>T , CM000668.2:g.151580274C>T | GRCh38 |
| NC_000006.11:g.151901409C>T , CM000668.1:g.151901409C>T | GRCh37 |
| NC_000006.10:g.151943102C>T | NCBI36 |
| NG_021198.1:g.91235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1093-5615C>T MANE Select | ENSP00000239374.6:n.1093-5615C>T | |
| ENST00000239374.7:c.1093-5615C>T | ENSP00000239374.6:n.1093-5615C>T | |
| NM_025059.3:c.1093-5615C>T | NP_079335.2:n.1093-5615C>T | |
| XM_011536147.1:c.1111-5615C>T | XP_011534449.1:n.1111-5615C>T | |
| XM_011536148.1:c.1110+6783C>T | XP_011534450.1:n.1110+6783C>T | |
| XM_011536147.2:c.1111-5615C>T | XP_011534449.1:n.1111-5615C>T | |
| XM_011536148.2:c.1110+6783C>T | XP_011534450.1:n.1110+6783C>T | |
| NM_025059.4:c.1093-5615C>T MANE Select | NP_079335.2:n.1093-5615C>T |