Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38880692G>A , CM000675.2:g.38880692G>A | GRCh38 |
| NC_000013.10:g.39454829G>A , CM000675.1:g.39454829G>A | GRCh37 |
| NC_000013.9:g.38352829G>A | NCBI36 |
| NG_008125.2:g.198657G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.9415G>A MANE Select | NP_997244.4:p.Glu3139Lys |
| ENST00000280481.9:c.9415G>A MANE Select | ENSP00000280481.7:p.Glu3139Lys |
| NM_207361.5:c.9415G>A | NP_997244.4:p.Glu3139Lys |
| ENST00000280481.8:c.9415G>A | ENSP00000280481.7:p.Glu3139Lys |