Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60869160G>A , CM000673.2:g.60869160G>A | GRCh38 |
| NC_000011.9:g.60636633G>A , CM000673.1:g.60636633G>A | GRCh37 |
| NC_000011.8:g.60393209G>A | NCBI36 |
| NG_034138.1:g.6619G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207341.4:c.212G>A MANE Select | NP_997224.2:p.Arg71Gln |
| ENST00000278853.10:c.212G>A MANE Select | ENSP00000278853.5:p.Arg71Gln |
| NM_207341.3:c.212G>A | NP_997224.2:p.Arg71Gln |
| ENST00000278853.9:c.212G>A | ENSP00000278853.5:p.Arg71Gln |
| ENST00000540908.1:c.4G>A |