Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5903923C= , CM000681.2:g.5903923C= | GRCh38 |
| NC_000019.9:g.5903934C= , CM000681.1:g.5903934C= | GRCh37 |
| NC_000019.8:g.5854934C= | NCBI36 |
| NG_027808.1:g.5091G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591160.1:n.84G= | ||
| NM_001193375.1:c.-215G= | NP_001180304.1:n.-215G= | |
| NM_175614.4:c.-215G= | NP_783313.1:n.-215G= | |
| NR_034166.2:n.91G= |