Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40679539A= , CM000684.2:g.40679539A= | GRCh38 |
| NC_000022.10:g.41075543A= , CM000684.1:g.41075543A= | GRCh37 |
| NC_000022.9:g.39405489A= | NCBI36 |
| NG_029686.1:g.5362A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005297.4:c.-114A= MANE Select | NP_005288.4:n.-114A= |
| ENST00000249016.5:c.-114A= MANE Select | ENSP00000249016.5:n.-114A= |
| NM_005297.3:c.94A= | NP_005288.3:p.Asn32= |
| ENST00000249016.4:c.94A= | ENSP00000249016.4:p.Asn32= |
| ENST00000381433.2:c.94A= | ENSP00000370841.2:p.Asn32= |
| ENST00000381433.3:c.-114A= | ENSP00000370841.3:n.-114A= |
| ENST00000498400.1:n.132+135A= | |
| XR_938268.1:n.348+1069T= |