Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898488G= , CM000679.2:g.4898488G= | GRCh38 |
| NC_000017.10:g.4801783G= , CM000679.1:g.4801783G= | GRCh37 |
| NC_000017.9:g.4742562G= | NCBI36 |
| NG_008029.2:g.9588C= | |
| NG_028005.1:g.70149G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*248C= MANE Select | ENSP00000497829.1:n.*248C= | |
| ENST00000649830.1:c.*366C= | ENSP00000496907.1:n.*366C= | |
| ENST00000652550.1:n.1456C= | ||
| ENST00000293780.4:c.*248C= | ENSP00000293780.4:n.*248C= | |
| ENST00000572438.1:n.1416C= | ||
| NM_000080.3:c.*248C= | NP_000071.1:n.*248C= | |
| NM_000080.4:c.*248C= MANE Select | NP_000071.1:n.*248C= | |
| XM_017024115.1:c.*248C= | XP_016879604.1:n.*248C= |