Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898699C>A , CM000679.2:g.4898699C>A | GRCh38 |
| NC_000017.10:g.4801994C>A , CM000679.1:g.4801994C>A | GRCh37 |
| NC_000017.9:g.4742773C>A | NCBI36 |
| NG_008029.2:g.9377G>T | |
| NG_028005.1:g.70360C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*37G>T MANE Select | ENSP00000497829.1:n.*37G>T | |
| ENST00000649830.1:c.*155G>T | ENSP00000496907.1:n.*155G>T | |
| ENST00000652550.1:n.1245G>T | ||
| ENST00000293780.4:c.*37G>T | ENSP00000293780.4:n.*37G>T | |
| ENST00000572438.1:n.1205G>T | ||
| NM_000080.3:c.*37G>T | NP_000071.1:n.*37G>T | |
| NM_000080.4:c.*37G>T MANE Select | NP_000071.1:n.*37G>T | |
| XM_017024115.1:c.*37G>T | XP_016879604.1:n.*37G>T |