Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899373C= , CM000679.2:g.4899373C= | GRCh38 |
| NC_000017.10:g.4802668C= , CM000679.1:g.4802668C= | GRCh37 |
| NC_000017.9:g.4743447C= | NCBI36 |
| NG_008029.2:g.8703G= | |
| NG_028005.1:g.71034C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1044G= MANE Select | ENSP00000497829.1:p.Glu348= | |
| ENST00000649830.1:c.111G= | ENSP00000496907.1:p.Glu37= | |
| ENST00000652550.1:n.774G= | ||
| ENST00000293780.4:c.1044G= | ENSP00000293780.4:p.Glu348= | |
| ENST00000572438.1:n.730G= | ||
| NM_000080.3:c.1044G= | NP_000071.1:p.Glu348= | |
| NM_000080.4:c.1044G= MANE Select | NP_000071.1:p.Glu348= | |
| XM_017024115.1:c.1008G= | XP_016879604.1:p.Glu336= | |
| XR_001752421.1:n.1774G= |