Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36251285T>C , CM000680.2:g.36251285T>C | GRCh38 |
| NC_000018.9:g.33831248T>C , CM000680.1:g.33831248T>C | GRCh37 |
| NC_000018.8:g.32085246T>C | NCBI36 |
| NG_053177.1:g.69076T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.2164+2T>C MANE Select | NP_060417.4:n.2164+2T>C |
| ENST00000261326.6:c.2164+2T>C MANE Select | ENSP00000261326.4:n.2164+2T>C |
| NM_017947.2:c.2164+2T>C | NP_060417.2:n.2164+2T>C |
| NM_017947.3:c.2164+2T>C | NP_060417.3:n.2164+2T>C |
| ENST00000261326.5:c.2164+2T>C | ENSP00000261326.4:n.2164+2T>C |