Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898494C= , CM000679.2:g.4898494C= | GRCh38 |
| NC_000017.10:g.4801789C= , CM000679.1:g.4801789C= | GRCh37 |
| NC_000017.9:g.4742568C= | NCBI36 |
| NG_008029.2:g.9582G= | |
| NG_028005.1:g.70155C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*242G= MANE Select | ENSP00000497829.1:n.*242G= | |
| ENST00000649830.1:c.*360G= | ENSP00000496907.1:n.*360G= | |
| ENST00000652550.1:n.1450G= | ||
| ENST00000293780.4:c.*242G= | ENSP00000293780.4:n.*242G= | |
| ENST00000572438.1:n.1410G= | ||
| NM_000080.3:c.*242G= | NP_000071.1:n.*242G= | |
| NM_000080.4:c.*242G= MANE Select | NP_000071.1:n.*242G= | |
| XM_017024115.1:c.*242G= | XP_016879604.1:n.*242G= |