Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5903980A= , CM000681.2:g.5903980A= | GRCh38 |
| NC_000019.9:g.5903991A= , CM000681.1:g.5903991A= | GRCh37 |
| NC_000019.8:g.5854991A= | NCBI36 |
| NG_027808.1:g.5034T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591160.1:n.27T= | ||
| NM_001193375.1:c.-272T= | NP_001180304.1:n.-272T= | |
| NM_175614.4:c.-272T= | NP_783313.1:n.-272T= | |
| NR_034166.2:n.34T= |