Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312837C= , CM000673.2:g.118312837C= | GRCh38 |
| NC_000011.9:g.118183552C= , CM000673.1:g.118183552C= | GRCh37 |
| NC_000011.8:g.117688762C= | NCBI36 |
| NG_007383.1:g.13258C= , LRG_38:g.13258C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.323C= MANE Select | ENSP00000354566.4:p.Ala108= | |
| ENST00000361763.8:c.323C= | ENSP00000354566.4:p.Ala108= | |
| ENST00000526146.5:n.869C= | ||
| ENST00000528435.5:n.876C= | ||
| ENST00000528600.1:c.305C= | ENSP00000433975.1:p.Ala102= | |
| ENST00000529713.5:n.429C= | ||
| ENST00000531913.1:n.694C= | ||
| NM_000733.3:c.323C= , LRG_38t1:c.323C= | NP_000724.1:p.Ala108= | |
| NM_000733.4:c.323C= MANE Select | NP_000724.1:p.Ala108= |