Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60852184T>A , CM000673.2:g.60852184T>A | GRCh38 |
| NC_000011.9:g.60619657T>A , CM000673.1:g.60619657T>A | GRCh37 |
| NC_000011.8:g.60376233T>A | NCBI36 |
| NG_016170.1:g.8788A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004778.3:c.*351A>T MANE Select | NP_004769.2:n.*351A>T |
| ENST00000332539.5:c.*351A>T MANE Select | ENSP00000332812.4:n.*351A>T |
| NM_004778.2:c.*351A>T | NP_004769.2:n.*351A>T |
| ENST00000332539.4:c.*351A>T | ENSP00000332812.4:n.*351A>T |