Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831139C= , CM000664.2:g.70831139C= | GRCh38 |
| NC_000002.11:g.71058270C= , CM000664.1:g.71058270C= | GRCh37 |
| NC_000002.10:g.70911778C= | NCBI36 |
| NG_033914.1:g.9685G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015717.5:c.898G= MANE Select | NP_056532.4:p.Ala300= |
| ENST00000410009.5:c.898G= MANE Select | ENSP00000386378.3:p.Ala300= |
| NM_015717.4:c.898G= | NP_056532.4:p.Ala300= |
| ENST00000410009.4:c.898G= | ENSP00000386378.3:p.Ala300= |
| XM_011532874.1:c.898G= | XP_011531176.1:p.Ala300= |
| XM_011532875.1:c.850+48G= | XP_011531177.1:n.850+48G= |
| XM_011532875.2:c.850+48G= | XP_011531177.1:n.850+48G= |
| XM_011532876.1:c.836+562G= | XP_011531178.1:n.836+562G= |
| XM_011532876.2:c.836+562G= | XP_011531178.1:n.836+562G= |