Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404718G= , CM000679.2:g.42404718G= | GRCh38 |
| NC_000017.10:g.40556736G= , CM000679.1:g.40556736G= | GRCh37 |
| NC_000017.9:g.37810262G= | NCBI36 |
| NG_015845.1:g.23603C= | |
| NG_015845.2:g.23603C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1142C= MANE Select | ENSP00000349541.4:p.Ala381= | |
| ENST00000357037.5:c.1142C= | ENSP00000349541.4:p.Ala381= | |
| NM_012232.5:c.1142C= | NP_036364.2:p.Ala381= | |
| NM_012232.6:c.1142C= MANE Select | NP_036364.2:p.Ala381= |