Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5904013G>T , CM000681.2:g.5904013G>T | GRCh38 |
| NC_000019.9:g.5904024G>T , CM000681.1:g.5904024G>T | GRCh37 |
| NC_000019.8:g.5855024G>T | NCBI36 |
| NG_027808.1:g.5001C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001193375.1:c.-305C>A | NP_001180304.1:n.-305C>A | |
| NM_175614.4:c.-305C>A | NP_783313.1:n.-305C>A | |
| NR_034166.2:n.1C>A |