Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56981179G= , CM000678.2:g.56981179G= | GRCh38 |
| NC_000016.9:g.57015091G= , CM000678.1:g.57015091G= | GRCh37 |
| NC_000016.8:g.55572592G= | NCBI36 |
| NG_008952.1:g.24257G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.1168G= MANE Select | NP_000069.2:p.Ala390= |
| ENST00000200676.8:c.1168G= MANE Select | ENSP00000200676.3:p.Ala390= |
| NM_000078.2:c.1168G= | NP_000069.2:p.Ala390= |
| NM_001286085.1:c.988G= | NP_001273014.1:p.Ala330= |
| NM_001286085.2:c.988G= | NP_001273014.1:p.Ala330= |
| ENST00000200676.7:c.1168G= | ENSP00000200676.3:p.Ala390= |
| ENST00000379780.6:c.988G= | ENSP00000369106.2:p.Ala330= |
| ENST00000566128.1:c.973G= | ENSP00000456276.1:p.Ala325= |
| ENST00000650358.1:n.1566G= |