Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353218C= , CM000678.2:g.20353218C= | GRCh38 |
| NC_000016.9:g.20364540C= , CM000678.1:g.20364540C= | GRCh37 |
| NC_000016.8:g.20272041C= | NCBI36 |
| NG_008151.1:g.4498G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570689.5:c.-39-2442G= | ENSP00000460548.1:n.-39-2442G= | |
| XM_011545938.1:c.-39-2442G= | XP_011544240.1:n.-39-2442G= |