Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32817498G= , CM000668.2:g.32817498G= | GRCh38 |
| NC_000006.11:g.32785275G= , CM000668.1:g.32785275G= | GRCh37 |
| NC_000006.10:g.32893253G= | NCBI36 |
| NG_009793.3:g.26273C= | |
| NG_012008.1:g.4551C= | |
| NG_009793.4:g.26273C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000452392.2:c.1933-546C= | ENSP00000391806.2:n.1933-546C= |
| ENST00000648009.1:c.-1-546C= | ENSP00000496848.1:n.-1-546C= |