Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36213483G>T , CM000680.2:g.36213483G>T | GRCh38 |
| NC_000018.9:g.33793446G>T , CM000680.1:g.33793446G>T | GRCh37 |
| NC_000018.8:g.32047444G>T | NCBI36 |
| NG_053177.1:g.31274G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.1335+1G>T MANE Select | NP_060417.4:n.1335+1G>T |
| ENST00000261326.6:c.1335+1G>T MANE Select | ENSP00000261326.4:n.1335+1G>T |
| NM_017947.2:c.1335+1G>T | NP_060417.2:n.1335+1G>T |
| NM_017947.3:c.1335+1G>T | NP_060417.3:n.1335+1G>T |
| ENST00000261326.5:c.1335+1G>T | ENSP00000261326.4:n.1335+1G>T |