Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44249304A>G , CM000679.2:g.44249304A>G | GRCh38 |
| NC_000017.10:g.42326672A>G , CM000679.1:g.42326672A>G | GRCh37 |
| NC_000017.9:g.39682198A>G | NCBI36 |
| NG_007498.1:g.23831T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*1154T>C MANE Select | ENSP00000262418.6:n.*1154T>C | |
| ENST00000262418.10:c.*1154T>C | ENSP00000262418.6:n.*1154T>C | |
| ENST00000399246.3:c.*1154T>C | ENSP00000382190.3:n.*1154T>C | |
| ENST00000631130.1:c.-100T>C | ENSP00000486787.1:n.-100T>C | |
| NM_000342.3:c.*1154T>C | NP_000333.1:n.*1154T>C | |
| XM_005257593.3:c.*1154T>C | XP_005257650.1:n.*1154T>C | |
| XM_011525129.1:c.*1154T>C | XP_011523431.1:n.*1154T>C | |
| NM_000342.4:c.*1154T>C MANE Select | NP_000333.1:n.*1154T>C |