gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46917833 (NFE)
Genomes Max Group AF
0.46917833 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119389891C>T , CM000672.2:g.119389891C>T | GRCh38 |
| NC_000010.10:g.121149403C>T , CM000672.1:g.121149403C>T | GRCh37 |
| NC_000010.9:g.121139393C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392870.3:c.262-6804C>T MANE Select | ENSP00000376609.2:n.262-6804C>T | |
| ENST00000392870.2:c.262-6804C>T | ENSP00000376609.2:n.262-6804C>T | |
| NM_005308.2:c.262-6804C>T | NP_005299.1:n.262-6804C>T | |
| XM_005269707.1:c.262-6804C>T | XP_005269764.1:n.262-6804C>T | |
| XM_005269708.1:c.166-6804C>T | XP_005269765.1:n.166-6804C>T | |
| XM_005269707.2:c.262-6804C>T | XP_005269764.1:n.262-6804C>T | |
| NM_005308.3:c.262-6804C>T MANE Select | NP_005299.1:n.262-6804C>T |