Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404699G= , CM000679.2:g.42404699G= | GRCh38 |
| NC_000017.10:g.40556717G= , CM000679.1:g.40556717G= | GRCh37 |
| NC_000017.9:g.37810243G= | NCBI36 |
| NG_015845.1:g.23622C= | |
| NG_015845.2:g.23622C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1161C= MANE Select | ENSP00000349541.4:p.Ser387= | |
| ENST00000357037.5:c.1161C= | ENSP00000349541.4:p.Ser387= | |
| NM_012232.5:c.1161C= | NP_036364.2:p.Ser387= | |
| NM_012232.6:c.1161C= MANE Select | NP_036364.2:p.Ser387= |