Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88722285C= , CM000678.2:g.88722285C= | GRCh38 |
| NC_000016.9:g.88788693C= , CM000678.1:g.88788693C= | GRCh37 |
| NC_000016.8:g.87316194C= | NCBI36 |
| NG_042229.1:g.67936G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.4888G= MANE Select | NP_001136336.2:p.Glu1630= |
| ENST00000301015.14:c.4888G= MANE Select | ENSP00000301015.9:p.Glu1630= |
| NM_001142864.2:c.4888G= | NP_001136336.2:p.Glu1630= |
| NM_001142864.3:c.4888G= | NP_001136336.2:p.Glu1630= |
| ENST00000301015.13:c.4888G= | ENSP00000301015.9:p.Glu1630= |