Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751977C>A , CM000677.2:g.74751977C>A | GRCh38 |
| NC_000015.9:g.75044318C>A , CM000677.1:g.75044318C>A | GRCh37 |
| NC_000015.8:g.72831371C>A | NCBI36 |
| NG_008431.1:g.34436C>A | |
| NG_008431.2:g.34436C>A | |
| NG_061543.1:g.8133C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1042+123C>A MANE Select | ENSP00000342007.4:n.1042+123C>A | |
| ENST00000343932.4:c.1042+123C>A | ENSP00000342007.4:n.1042+123C>A | |
| NM_000761.4:c.1042+123C>A | NP_000752.2:n.1042+123C>A | |
| NM_000761.5:c.1042+123C>A MANE Select | NP_000752.2:n.1042+123C>A |