Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123074702C= , CM000673.2:g.123074702C= | GRCh38 |
| NC_000011.9:g.122945410C= , CM000673.1:g.122945410C= | GRCh37 |
| NC_000011.8:g.122450620C= | NCBI36 |
| NG_042818.1:g.125604G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024769.5:c.821G= MANE Select | NP_079045.1:p.Arg274= |
| ENST00000448775.4:c.821G= MANE Select | ENSP00000405577.2:p.Arg274= |
| NM_024769.2:c.821G= | NP_079045.1:p.Arg274= |
| NM_024769.3:c.821G= | NP_079045.1:p.Arg274= |
| NM_024769.4:c.821G= | NP_079045.1:p.Arg274= |
| ENST00000448775.3:c.821G= | ENSP00000405577.2:p.Arg274= |
| ENST00000527977.5:n.643G= | |
| ENST00000530371.5:n.295G= | |
| XM_011542998.1:c.*147G= | XP_011541300.1:n.*147G= |
| XM_011542999.1:c.680-928G= | XP_011541301.1:n.680-928G= |
| XR_429008.2:n.415-9869C= |