Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234098C>T , CM000673.2:g.5234098C>T | GRCh38 |
| NC_000011.9:g.5255328C>T , CM000673.1:g.5255328C>T | GRCh37 |
| NC_000011.8:g.5211904C>T | NCBI36 |
| NG_000007.3:g.63518G>A | |
| NG_063112.2:g.14560G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.4:c.208G>A MANE Select | NP_000510.1:p.Gly70Ser |
| ENST00000650601.1:c.208G>A MANE Select | ENSP00000497529.1:p.Gly70Ser |
| NM_000519.3:c.208G>A | NP_000510.1:p.Gly70Ser |
| ENST00000292901.7:c.208G>A | ENSP00000292901.3:p.Gly70Ser |
| ENST00000380299.3:c.208G>A | ENSP00000369654.3:p.Gly70Ser |
| ENST00000417377.1:c.92+244G>A | ENSP00000414741.1:n.92+244G>A |
| ENST00000429817.1:c.208G>A | ENSP00000393810.1:p.Gly70Ser |
| ENST00000643122.1:c.208G>A | ENSP00000494708.1:p.Gly70Ser |