Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33066731C>T , CM000679.2:g.33066731C>T | GRCh38 |
| NC_000017.10:g.31393749C>T , CM000679.1:g.31393749C>T | GRCh37 |
| NC_000017.9:g.28417862C>T | NCBI36 |
| NG_029763.1:g.1095077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225823.7:c.987+22132G>A MANE Select | ENSP00000225823.2:n.987+22132G>A | |
| ENST00000225823.6:c.987+22132G>A | ENSP00000225823.2:n.987+22132G>A | |
| ENST00000359872.6:c.834+22132G>A | ENSP00000352934.6:n.834+22132G>A | |
| ENST00000448983.1:n.392+22132G>A | ||
| NM_001094.4:c.834+22132G>A | NP_001085.2:n.834+22132G>A | |
| NM_183377.1:c.987+22132G>A | NP_899233.1:n.987+22132G>A | |
| NM_001094.5:c.834+22132G>A | NP_001085.2:n.834+22132G>A | |
| NM_183377.2:c.987+22132G>A MANE Select | NP_899233.1:n.987+22132G>A |