Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60644805C>T , CM000676.2:g.60644805C>T | GRCh38 |
| NC_000014.8:g.61111523C>T , CM000676.1:g.61111523C>T | GRCh37 |
| NC_000014.7:g.60181276C>T | NCBI36 |
| NG_008231.1:g.9633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*1478G>A MANE Select | ENSP00000494686.1:n.*1478G>A | |
| ENST00000247182.6:c.*1478G>A | ENSP00000247182.5:n.*1478G>A | |
| ENST00000554986.2:c.*1478G>A | ENSP00000452700.2:n.*1478G>A | |
| NM_005982.3:c.*1478G>A | NP_005973.1:n.*1478G>A | |
| XM_017021602.2:c.*1752G>A | XP_016877091.1:n.*1752G>A | |
| NM_005982.4:c.*1478G>A MANE Select | NP_005973.1:n.*1478G>A |