Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88722285C>A , CM000678.2:g.88722285C>A | GRCh38 |
| NC_000016.9:g.88788693C>A , CM000678.1:g.88788693C>A | GRCh37 |
| NC_000016.8:g.87316194C>A | NCBI36 |
| NG_042229.1:g.67936G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.4888G>T MANE Select | NP_001136336.2:p.Glu1630Ter |
| ENST00000301015.14:c.4888G>T MANE Select | ENSP00000301015.9:p.Glu1630Ter |
| NM_001142864.2:c.4888G>T | NP_001136336.2:p.Glu1630Ter |
| NM_001142864.3:c.4888G>T | NP_001136336.2:p.Glu1630Ter |
| ENST00000301015.13:c.4888G>T | ENSP00000301015.9:p.Glu1630Ter |