Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899378G= , CM000679.2:g.4899378G= | GRCh38 |
| NC_000017.10:g.4802673G= , CM000679.1:g.4802673G= | GRCh37 |
| NC_000017.9:g.4743452G= | NCBI36 |
| NG_008029.2:g.8698C= | |
| NG_028005.1:g.71039G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1039C= MANE Select | ENSP00000497829.1:p.Leu347= | |
| ENST00000649830.1:c.106C= | ENSP00000496907.1:p.Leu36= | |
| ENST00000652550.1:n.769C= | ||
| ENST00000293780.4:c.1039C= | ENSP00000293780.4:p.Leu347= | |
| ENST00000572438.1:n.725C= | ||
| NM_000080.3:c.1039C= | NP_000071.1:p.Leu347= | |
| NM_000080.4:c.1039C= MANE Select | NP_000071.1:p.Leu347= | |
| XM_017024115.1:c.1003C= | XP_016879604.1:p.Leu335= | |
| XR_001752421.1:n.1769C= |