Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32164188C= , CM000668.2:g.32164188C= | GRCh38 |
| NC_000006.11:g.32131965C= , CM000668.1:g.32131965C= | GRCh37 |
| NC_000006.10:g.32239943C= | NCBI36 |
| NG_042283.1:g.15737C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421600.2:c.225-391C= | ||
| ENST00000422437.5:c.766-391C= | ENSP00000457534.1:n.766-391C= | |
| ENST00000428388.6:c.766-391C= | ENSP00000455087.1:n.766-391C= | |
| ENST00000453656.6:n.897-391C= | ||
| ENST00000479001.2:n.751-391C= | ||
| ENST00000583227.5:c.*318-391C= | ENSP00000461909.1:n.*318-391C= | |
| ENST00000585246.5:c.*317+1566C= | ENSP00000463570.1:n.*317+1566C= | |
| NR_037861.1:n.1180-391C= |