Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819241C>T , CM000668.2:g.32819241C>T | GRCh38 |
| NC_000006.11:g.32787018C>T , CM000668.1:g.32787018C>T | GRCh37 |
| NC_000006.10:g.32894996C>T | NCBI36 |
| NG_009793.3:g.24530G>A | |
| NG_012008.1:g.2808G>A | |
| NG_009793.4:g.24530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-2+1070G>A | ENSP00000496848.1:n.-2+1070G>A | |
| ENST00000452392.2:c.1933-2289G>A | ENSP00000391806.2:n.1933-2289G>A |