Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.78490672C= , CM000663.2:g.78490672C= | GRCh38 |
| NC_000001.10:g.78956357C= , CM000663.1:g.78956357C= | GRCh37 |
| NC_000001.9:g.78728945C= | NCBI36 |
| NG_052997.1:g.4699C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370758.5:c.-72-2000C= | ENSP00000359794.1:n.-72-2000C= | |
| XM_006710781.2:c.-72-2000C= | XP_006710844.1:n.-72-2000C= |