Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241847969C= , CM000663.2:g.241847969C= | GRCh38 |
| NC_000001.10:g.242011271C= , CM000663.1:g.242011271C= | GRCh37 |
| NC_000001.9:g.240077894C= | NCBI36 |
| NG_029100.1:g.4779C= | |
| NG_029100.2:g.4779C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519225.5:c.-546C= | ENSP00000429720.1:n.-546C= | |
| XM_011544322.1:c.-546C= | XP_011542624.1:n.-546C= |