Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3976716G>A , CM000681.2:g.3976716G>A | GRCh38 |
| NC_000019.9:g.3976714G>A , CM000681.1:g.3976714G>A | GRCh37 |
| NC_000019.8:g.3927714G>A | NCBI36 |
| NG_042274.1:g.13748C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001961.4:c.2415C>T MANE Select | NP_001952.1:p.Gly805= |
| ENST00000309311.7:c.2415C>T MANE Select | ENSP00000307940.5:p.Gly805= |
| NM_001961.3:c.2415C>T | NP_001952.1:p.Gly805= |
| ENST00000309311.6:c.2415C>T | ENSP00000307940.5:p.Gly805= |
| ENST00000600794.1:c.108-416C>T |