Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756714G>A , CM000678.2:g.30756714G>A | GRCh38 |
| NC_000016.9:g.30768035G>A , CM000678.1:g.30768035G>A | GRCh37 |
| NC_000016.8:g.30675536G>A | NCBI36 |
| NG_016616.1:g.13416G>A | |
| NG_016616.2:g.13416G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000294.3:c.926G>A MANE Select | NP_000285.1:p.Arg309Gln |
| ENST00000563588.6:c.926G>A MANE Select | ENSP00000455607.1:p.Arg309Gln |
| NM_000294.2:c.926G>A | NP_000285.1:p.Arg309Gln |
| NM_001172432.1:c.926G>A | NP_001165903.1:p.Arg309Gln |
| NM_001172432.2:c.926G>A | NP_001165903.1:p.Arg309Gln |
| ENST00000328273.11:c.938G>A | ENSP00000329968.7:p.Arg313Gln |
| ENST00000424889.7:c.926G>A | ENSP00000388571.3:p.Arg309Gln |
| ENST00000563588.5:c.926G>A | ENSP00000455607.1:p.Arg309Gln |
| ENST00000563913.5:n.1259G>A | |
| ENST00000564838.5:n.1055G>A |