Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44249010C>A , CM000679.2:g.44249010C>A | GRCh38 |
| NC_000017.10:g.42326378C>A , CM000679.1:g.42326378C>A | GRCh37 |
| NC_000017.9:g.39681904C>A | NCBI36 |
| NG_007498.1:g.24125G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*1448G>T MANE Select | ENSP00000262418.6:n.*1448G>T | |
| ENST00000262418.10:c.*1448G>T | ENSP00000262418.6:n.*1448G>T | |
| ENST00000399246.3:c.*1448G>T | ENSP00000382190.3:n.*1448G>T | |
| ENST00000631130.1:c.*84G>T | ENSP00000486787.1:n.*84G>T | |
| NM_000342.3:c.*1448G>T | NP_000333.1:n.*1448G>T | |
| XM_005257593.3:c.*1448G>T | XP_005257650.1:n.*1448G>T | |
| XM_011525129.1:c.*1448G>T | XP_011523431.1:n.*1448G>T | |
| NM_000342.4:c.*1448G>T MANE Select | NP_000333.1:n.*1448G>T |