Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898639G>C , CM000679.2:g.4898639G>C | GRCh38 |
| NC_000017.10:g.4801934G>C , CM000679.1:g.4801934G>C | GRCh37 |
| NC_000017.9:g.4742713G>C | NCBI36 |
| NG_008029.2:g.9437C>G | |
| NG_028005.1:g.70300G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*97C>G MANE Select | ENSP00000497829.1:n.*97C>G | |
| ENST00000649830.1:c.*215C>G | ENSP00000496907.1:n.*215C>G | |
| ENST00000652550.1:n.1305C>G | ||
| ENST00000293780.4:c.*97C>G | ENSP00000293780.4:n.*97C>G | |
| ENST00000572438.1:n.1265C>G | ||
| NM_000080.3:c.*97C>G | NP_000071.1:n.*97C>G | |
| NM_000080.4:c.*97C>G MANE Select | NP_000071.1:n.*97C>G | |
| XM_017024115.1:c.*97C>G | XP_016879604.1:n.*97C>G |