Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353329C= , CM000678.2:g.20353329C= | GRCh38 |
| NC_000016.9:g.20364651C= , CM000678.1:g.20364651C= | GRCh37 |
| NC_000016.8:g.20272152C= | NCBI36 |
| NG_008151.1:g.4387G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570689.5:c.-39-2553G= | ENSP00000460548.1:n.-39-2553G= | |
| XM_011545938.1:c.-39-2553G= | XP_011544240.1:n.-39-2553G= |