Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582554T>C , CM000673.2:g.47582554T>C | GRCh38 |
| NC_000011.9:g.47604106T>C , CM000673.1:g.47604106T>C | GRCh37 |
| NC_000011.8:g.47560682T>C | NCBI36 |
| NG_011946.1:g.8545T>C | |
| NG_011946.2:g.8545T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.627+86T>C MANE Select | ENSP00000263774.4:n.627+86T>C | |
| ENST00000531351.2:n.1822+86T>C | ||
| ENST00000677462.1:n.3101+86T>C | ||
| ENST00000678975.1:n.2884+86T>C | ||
| ENST00000263774.8:c.627+86T>C | ENSP00000263774.4:n.627+86T>C | |
| ENST00000525212.1:n.282+86T>C | ||
| ENST00000525378.5:n.565+86T>C | ||
| ENST00000527178.1:n.227+86T>C | ||
| ENST00000533507.5:n.1521+86T>C | ||
| NM_004551.2:c.627+86T>C | NP_004542.1:n.627+86T>C | |
| NM_004551.3:c.627+86T>C MANE Select | NP_004542.1:n.627+86T>C |