Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532580G>A , CM000665.2:g.129532580G>A | GRCh38 |
| NC_000003.11:g.129251423G>A , CM000665.1:g.129251423G>A | GRCh37 |
| NC_000003.10:g.130734113G>A | NCBI36 |
| NG_009115.1:g.8942G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.744G>A MANE Select | NP_000530.1:p.Lys248= |
| ENST00000296271.4:c.744G>A MANE Select | ENSP00000296271.3:p.Lys248= |
| ENST00000296271.3:c.744G>A | ENSP00000296271.3:p.Lys248= |