gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.101327270A>T , CM000668.2:g.101327270A>T | GRCh38 |
| NC_000006.11:g.101775146A>T , CM000668.1:g.101775146A>T | GRCh37 |
| NC_000006.10:g.101881867A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682090.1:c.-293-71715A>T | ENSP00000508130.1:n.-293-71715A>T | |
| ENST00000683774.1:n.233-13272A>T | ||
| ENST00000421544.6:c.-293-71715A>T | ENSP00000397026.1:n.-293-71715A>T |