Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312631C= , CM000673.2:g.118312631C= | GRCh38 |
| NC_000011.9:g.118183346C= , CM000673.1:g.118183346C= | GRCh37 |
| NC_000011.8:g.117688556C= | NCBI36 |
| NG_007383.1:g.13052C= , LRG_38:g.13052C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.117C= MANE Select | ENSP00000354566.4:p.Ser39= | |
| ENST00000361763.8:c.117C= | ENSP00000354566.4:p.Ser39= | |
| ENST00000526146.5:n.663C= | ||
| ENST00000528435.5:n.670C= | ||
| ENST00000528600.1:c.99C= | ENSP00000433975.1:p.Ser33= | |
| ENST00000529713.5:n.223C= | ||
| ENST00000531913.1:n.488C= | ||
| NM_000733.3:c.117C= , LRG_38t1:c.117C= | NP_000724.1:p.Ser39= | |
| NM_000733.4:c.117C= MANE Select | NP_000724.1:p.Ser39= |