Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88499935A= , CM000666.2:g.88499935A= | GRCh38 |
| NC_000004.11:g.89421086A= , CM000666.1:g.89421086A= | GRCh37 |
| NC_000004.10:g.89640109A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016323.4:c.2454A= MANE Select | NP_057407.2:p.Gln818= |
| ENST00000264350.8:c.2454A= MANE Select | ENSP00000264350.3:p.Gln818= |
| NM_016323.3:c.2454A= | NP_057407.2:p.Gln818= |
| ENST00000264350.7:c.2454A= | ENSP00000264350.3:p.Gln818= |
| ENST00000502913.1:n.1175A= | |
| ENST00000508159.1:c.1368A= | ENSP00000424129.1:p.Gln456= |
| ENST00000510223.5:n.1942A= | |
| XM_011532022.1:c.2229A= | XP_011530324.1:p.Gln743= |
| XM_011532022.2:c.2682A= | XP_011530324.2:p.Gln894= |
| XM_011532023.1:c.2166A= | XP_011530325.1:p.Gln722= |