Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5903940C>T , CM000681.2:g.5903940C>T | GRCh38 |
| NC_000019.9:g.5903951C>T , CM000681.1:g.5903951C>T | GRCh37 |
| NC_000019.8:g.5854951C>T | NCBI36 |
| NG_027808.1:g.5074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591160.1:n.67G>A | ||
| NM_001193375.1:c.-232G>A | NP_001180304.1:n.-232G>A | |
| NM_175614.4:c.-232G>A | NP_783313.1:n.-232G>A | |
| NR_034166.2:n.74G>A |