Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901107G>C , CM000679.2:g.42901107G>C | GRCh38 |
| NC_000017.10:g.41053124G>C , CM000679.1:g.41053124G>C | GRCh37 |
| NC_000017.9:g.38306650G>C | NCBI36 |
| NG_011808.1:g.5310G>C , LRG_147:g.5310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.230+1G>C MANE Select | ENSP00000253801.1:n.230+1G>C | |
| ENST00000253801.6:c.230+1G>C | ENSP00000253801.1:n.230+1G>C | |
| ENST00000585489.1:c.230+1G>C | ENSP00000466202.1:n.230+1G>C | |
| ENST00000588481.1:n.295+1G>C | ||
| ENST00000592383.5:c.230+1G>C | ENSP00000465958.1:n.230+1G>C | |
| NM_000151.3:c.230+1G>C | NP_000142.2:n.230+1G>C | |
| NM_001270397.1:c.230+1G>C | NP_001257326.1:n.230+1G>C | |
| NM_000151.4:c.230+1G>C MANE Select | NP_000142.2:n.230+1G>C | |
| NM_001270397.2:c.230+1G>C | NP_001257326.1:n.230+1G>C |