Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1192930C>A , CM000673.2:g.1192930C>A | GRCh38 |
| NC_000011.9:g.1214155C>A , CM000673.1:g.1214155C>A | GRCh37 |
| NC_000011.8:g.1170731C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304359.2:c.14528C>A MANE Select | NP_001291288.1:p.Thr4843Asn |
| ENST00000621226.2:c.14528C>A MANE Select | ENSP00000485659.1:p.Thr4843Asn |
| NM_001304359.1:c.14528C>A | NP_001291288.1:p.Thr4843Asn |