Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234080G>A , CM000673.2:g.5234080G>A | GRCh38 |
| NC_000011.9:g.5255310G>A , CM000673.1:g.5255310G>A | GRCh37 |
| NC_000011.8:g.5211886G>A | NCBI36 |
| NG_000007.3:g.63536C>T | |
| NG_063112.2:g.14578C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.4:c.226C>T MANE Select | NP_000510.1:p.Leu76= |
| ENST00000650601.1:c.226C>T MANE Select | ENSP00000497529.1:p.Leu76= |
| NM_000519.3:c.226C>T | NP_000510.1:p.Leu76= |
| ENST00000292901.7:c.226C>T | ENSP00000292901.3:p.Leu76= |
| ENST00000380299.3:c.226C>T | ENSP00000369654.3:p.Leu76= |
| ENST00000417377.1:c.92+262C>T | ENSP00000414741.1:n.92+262C>T |
| ENST00000429817.1:c.226C>T | ENSP00000393810.1:p.Leu76= |
| ENST00000643122.1:c.226C>T | ENSP00000494708.1:p.Leu76= |