Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333242G= , CM000673.2:g.47333242G= | GRCh38 |
| NC_000011.9:g.47354793G= , CM000673.1:g.47354793G= | GRCh37 |
| NC_000011.8:g.47311369G= | NCBI36 |
| NG_007667.1:g.24461C= , LRG_386:g.24461C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3282C= MANE Select | ENSP00000442795.1:p.Asn1094= | |
| ENST00000256993.8:c.3282C= | ENSP00000256993.5:p.Asn1094= | |
| ENST00000399249.6:c.3282C= | ENSP00000382193.2:p.Asn1094= | |
| ENST00000545968.5:c.3282C= | ENSP00000442795.1:p.Asn1094= | |
| NM_000256.3:c.3282C= , LRG_386t1:c.3282C= MANE Select | NP_000247.2:p.Asn1094= | |
| XM_011520117.1:c.3264C= | XP_011518419.1:p.Asn1088= | |
| XM_011520118.1:c.3201C= | XP_011518420.1:p.Asn1067= |