Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154750G= , CM000681.2:g.55154750G= | GRCh38 |
| NC_000019.9:g.55666118G= , CM000681.1:g.55666118G= | GRCh37 |
| NC_000019.8:g.60357930G= | NCBI36 |
| NG_007866.2:g.7983C= , LRG_432:g.7983C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.363C= MANE Select | ENSP00000341838.5:p.Asn121= | |
| ENST00000665070.1:c.363C= | ENSP00000499482.1:p.Asn121= | |
| ENST00000344887.9:c.363C= | ENSP00000341838.5:p.Asn121= | |
| ENST00000585806.5:n.362C= | ||
| ENST00000586669.5:n.371C= | ||
| ENST00000587176.5:n.547C= | ||
| ENST00000588882.1:c.288C= | ENSP00000466729.1:p.Asn96= | |
| ENST00000590463.1:n.535C= | ||
| NM_000363.4:c.363C= , LRG_432t1:c.363C= | NP_000354.4:p.Asn121= | |
| NM_000363.5:c.363C= MANE Select | NP_000354.4:p.Asn121= |