Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5903972G= , CM000681.2:g.5903972G= | GRCh38 |
| NC_000019.9:g.5903983G= , CM000681.1:g.5903983G= | GRCh37 |
| NC_000019.8:g.5854983G= | NCBI36 |
| NG_027808.1:g.5042C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591160.1:n.35C= | ||
| NM_001193375.1:c.-264C= | NP_001180304.1:n.-264C= | |
| NM_175614.4:c.-264C= | NP_783313.1:n.-264C= | |
| NR_034166.2:n.42C= |