Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24056921A>G , CM000676.2:g.24056921A>G | GRCh38 |
| NC_000014.8:g.24526130A>G , CM000676.1:g.24526130A>G | GRCh37 |
| NC_000014.7:g.23595970A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138360.4:c.959A>G MANE Select | NP_612369.3:p.Gln320Arg |
| ENST00000342740.6:c.959A>G MANE Select | ENSP00000340467.5:p.Gln320Arg |
| NM_138360.3:c.959A>G | NP_612369.3:p.Gln320Arg |
| ENST00000342740.5:c.959A>G | ENSP00000340467.5:p.Gln320Arg |
| XM_011537300.1:c.668A>G | XP_011535602.1:p.Gln223Arg |