Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285404A= , CM000681.2:g.40285404A= | GRCh38 |
| NC_000019.9:g.40791311A= , CM000681.1:g.40791311A= | GRCh37 |
| NC_000019.8:g.45483151A= | NCBI36 |
| NG_012038.2:g.4955T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-85+44T= | ENSP00000462022.1:n.-85+44T= | |
| XM_011526620.1:c.-85+44T= | XP_011524922.1:n.-85+44T= |