Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32164456G>C , CM000668.2:g.32164456G>C | GRCh38 |
| NC_000006.11:g.32132233G>C , CM000668.1:g.32132233G>C | GRCh37 |
| NC_000006.10:g.32240211G>C | NCBI36 |
| NG_042283.1:g.16005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421600.2:c.225-123G>C | ||
| ENST00000422437.5:c.766-123G>C | ENSP00000457534.1:n.766-123G>C | |
| ENST00000428388.6:c.766-123G>C | ENSP00000455087.1:n.766-123G>C | |
| ENST00000453656.6:n.897-123G>C | ||
| ENST00000479001.2:n.751-123G>C | ||
| ENST00000583227.5:c.*318-123G>C | ENSP00000461909.1:n.*318-123G>C | |
| ENST00000585246.5:c.*318-1682G>C | ENSP00000463570.1:n.*318-1682G>C | |
| NR_037861.1:n.1180-123G>C |