Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898636T>C , CM000679.2:g.4898636T>C | GRCh38 |
| NC_000017.10:g.4801931T>C , CM000679.1:g.4801931T>C | GRCh37 |
| NC_000017.9:g.4742710T>C | NCBI36 |
| NG_008029.2:g.9440A>G | |
| NG_028005.1:g.70297T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*100A>G MANE Select | ENSP00000497829.1:n.*100A>G | |
| ENST00000649830.1:c.*218A>G | ENSP00000496907.1:n.*218A>G | |
| ENST00000652550.1:n.1308A>G | ||
| ENST00000293780.4:c.*100A>G | ENSP00000293780.4:n.*100A>G | |
| ENST00000572438.1:n.1268A>G | ||
| NM_000080.3:c.*100A>G | NP_000071.1:n.*100A>G | |
| NM_000080.4:c.*100A>G MANE Select | NP_000071.1:n.*100A>G | |
| XM_017024115.1:c.*100A>G | XP_016879604.1:n.*100A>G |