Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1240410C>A , CM000673.2:g.1240410C>A | GRCh38 |
| NC_000011.9:g.1261640C>A , CM000673.1:g.1261640C>A | GRCh37 |
| NC_000011.8:g.1218216C>A | NCBI36 |
| NG_031880.1:g.22346C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002458.3:c.3970+35C>A MANE Select | NP_002449.2:n.3970+35C>A |
| ENST00000529681.5:c.3970+35C>A MANE Select | ENSP00000436812.1:n.3970+35C>A |
| NM_002458.2:c.3970+35C>A | NP_002449.2:n.3970+35C>A |