gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45816806 (NFE)
Genomes Max Group AF
0.45816806 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43025182C>T , CM000683.2:g.43025182C>T | GRCh38 |
| NC_000021.8:g.44445292C>T , CM000683.1:g.44445292C>T | GRCh37 |
| NC_000021.7:g.43318361C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291547.10:c.926+235C>T MANE Select | ENSP00000291547.4:n.926+235C>T | |
| ENST00000291547.9:c.926+235C>T | ENSP00000291547.4:n.926+235C>T | |
| ENST00000432907.6:c.575+235C>T | ENSP00000402243.2:n.575+235C>T | |
| ENST00000474336.5:n.358+235C>T | ||
| ENST00000557820.5:n.304+235C>T | ||
| ENST00000558955.2:n.131+235C>T | ||
| ENST00000560448.5:c.*568+235C>T | ENSP00000453486.1:n.*568+235C>T | |
| ENST00000607049.5:n.230-3433C>T | ||
| ENST00000607150.1:n.377+235C>T | ||
| NM_001286258.1:c.575+235C>T | NP_001273187.1:n.575+235C>T | |
| NM_004571.4:c.926+235C>T | NP_004562.2:n.926+235C>T | |
| XM_011529604.1:c.923+235C>T | XP_011527906.1:n.923+235C>T | |
| NM_001320694.1:c.923+235C>T | NP_001307623.1:n.923+235C>T | |
| NM_001320694.2:c.923+235C>T | NP_001307623.1:n.923+235C>T | |
| NM_004571.5:c.926+235C>T MANE Select | NP_004562.2:n.926+235C>T | |
| NM_001286258.2:c.575+235C>T | NP_001273187.1:n.575+235C>T |