gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40809496 (NFE)
Genomes Max Group AF
0.40809496 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132435113C>T , CM000667.2:g.132435113C>T | GRCh38 |
| NC_000005.9:g.131770805C>T , CM000667.1:g.131770805C>T | GRCh37 |
| NC_000005.8:g.131798704C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638452.2:c.-208-14537C>T | ENSP00000492349.2:n.-208-14537C>T | |
| ENST00000638504.1:n.206+15173C>T | ||
| ENST00000638568.2:c.-350-14537C>T | ENSP00000491158.2:n.-350-14537C>T | |
| ENST00000639899.1:n.250-14537C>T | ||
| ENST00000337752.6:c.49-14537C>T | ENSP00000338228.2:n.49-14537C>T | |
| ENST00000378947.7:c.49-14537C>T | ENSP00000368230.3:n.49-14537C>T | |
| ENST00000378953.8:c.49-14537C>T | ENSP00000368236.4:n.49-14537C>T | |
| ENST00000407797.5:c.49-14537C>T | ENSP00000385513.1:n.49-14537C>T | |
| ENST00000461203.5:n.180-14537C>T | ||
| ENST00000621237.1:c.49-14537C>T | ENSP00000481774.1:n.49-14537C>T | |
| NR_045116.1:n.388-14537C>T | ||
| NM_001207001.2:c.49-14537C>T | NP_001193930.1:n.49-14537C>T | |
| NR_161242.1:n.232-14537C>T |