Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819184A= , CM000668.2:g.32819184A= | GRCh38 |
| NC_000006.11:g.32786961A= , CM000668.1:g.32786961A= | GRCh37 |
| NC_000006.10:g.32894939A= | NCBI36 |
| NG_009793.3:g.24587T= | |
| NG_012008.1:g.2865T= | |
| NG_009793.4:g.24587T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-2+1127T= | ENSP00000496848.1:n.-2+1127T= | |
| ENST00000452392.2:c.1933-2232T= | ENSP00000391806.2:n.1933-2232T= |