Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930899G= , CM000681.2:g.38930899G= | GRCh38 |
| NC_000019.9:g.39421539G= , CM000681.1:g.39421539G= | GRCh37 |
| NC_000019.8:g.44113379G= | NCBI36 |
| NG_029222.1:g.5192G= | |
| NG_031865.1:g.4998C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308018.8:c.-119G= | ENSP00000308845.3:n.-119G= | |
| ENST00000599996.1:c.476-4599C= | ||
| NM_033362.3:c.-119G= | NP_203526.1:n.-119G= |