Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898814C>G , CM000679.2:g.4898814C>G | GRCh38 |
| NC_000017.10:g.4802109C>G , CM000679.1:g.4802109C>G | GRCh37 |
| NC_000017.9:g.4742888C>G | NCBI36 |
| NG_008029.2:g.9262G>C | |
| NG_028005.1:g.70475C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1404G>C MANE Select | ENSP00000497829.1:p.Val468= | |
| ENST00000649830.1:c.*40G>C | ENSP00000496907.1:n.*40G>C | |
| ENST00000652550.1:n.1130G>C | ||
| ENST00000293780.4:c.1404G>C | ENSP00000293780.4:p.Val468= | |
| ENST00000572438.1:n.1090G>C | ||
| NM_000080.3:c.1404G>C | NP_000071.1:p.Val468= | |
| NM_000080.4:c.1404G>C MANE Select | NP_000071.1:p.Val468= | |
| XM_017024115.1:c.1368G>C | XP_016879604.1:p.Val456= |