Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1237573A>C , CM000673.2:g.1237573A>C | GRCh38 |
| NC_000011.9:g.1258803A>C , CM000673.1:g.1258803A>C | GRCh37 |
| NC_000011.8:g.1215379A>C | NCBI36 |
| NG_031880.1:g.19509A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002458.3:c.3297+409A>C MANE Select | NP_002449.2:n.3297+409A>C |
| ENST00000529681.5:c.3297+409A>C MANE Select | ENSP00000436812.1:n.3297+409A>C |
| NM_002458.2:c.3297+409A>C | NP_002449.2:n.3297+409A>C |
| ENST00000525715.5:n.3355+409A>C |