Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826910G>T , CM000667.2:g.148826910G>T | GRCh38 |
| NC_000005.9:g.148206473G>T , CM000667.1:g.148206473G>T | GRCh37 |
| NC_000005.8:g.148186666G>T | NCBI36 |
| NG_016421.2:g.5318G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000024.6:c.79G>T MANE Select | NP_000015.2:p.Glu27Ter |
| ENST00000305988.6:c.79G>T MANE Select | ENSP00000305372.4:p.Glu27Ter |
| ENST00000305988.5:c.79G>T | ENSP00000305372.4:p.Glu27Ter |