gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49888265 (AFR)
Genomes Max Group AF
0.49888265 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42763377C>T , CM000668.2:g.42763377C>T | GRCh38 |
| NC_000006.11:g.42731115C>T , CM000668.1:g.42731115C>T | GRCh37 |
| NC_000006.10:g.42839093C>T | NCBI36 |
| NG_054763.1:g.21420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614467.4:c.-261+16354C>T | ENSP00000482211.1:n.-261+16354C>T | |
| XR_926809.1:n.919+3443C>T | ||
| XR_926810.1:n.904+3443C>T | ||
| XR_926811.1:n.1175+3443C>T | ||
| NM_001318819.1:c.-365+16354C>T | NP_001305748.1:n.-365+16354C>T | |
| NM_001318819.2:c.-365+16354C>T | NP_001305748.1:n.-365+16354C>T |