Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371856C>T , CM000680.2:g.60371856C>T | GRCh38 |
| NC_000018.9:g.58039089C>T , CM000680.1:g.58039089C>T | GRCh37 |
| NC_000018.8:g.56190069C>T | NCBI36 |
| NG_016441.1:g.5913G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005912.3:c.494G>A MANE Select | NP_005903.2:p.Arg165Gln |
| ENST00000299766.5:c.494G>A MANE Select | ENSP00000299766.3:p.Arg165Gln |
| NM_005912.2:c.494G>A | NP_005903.2:p.Arg165Gln |
| ENST00000299766.4:c.494G>A | ENSP00000299766.3:p.Arg165Gln |