Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154195934G= , CM000685.2:g.154195934G= | GRCh38 |
| NC_000023.10:g.153461425G= , CM000685.1:g.153461425G= | GRCh37 |
| NG_011606.1:g.18341G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000513.2:c.989G= MANE Select | NP_000504.1:p.Arg330= |
| ENST00000595290.6:c.989G= MANE Select | ENSP00000472316.1:p.Arg330= |
| ENST00000595290.5:c.989G= | ENSP00000472316.1:p.Arg330= |
| ENST00000596998.2:c.387G= |