Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233887T>C , CM000673.2:g.5233887T>C | GRCh38 |
| NC_000011.9:g.5255117T>C , CM000673.1:g.5255117T>C | GRCh37 |
| NC_000011.8:g.5211693T>C | NCBI36 |
| NG_000007.3:g.63729A>G | |
| NG_063112.2:g.14771A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643122.1:c.315+104A>G | ENSP00000494708.1:n.315+104A>G | |
| ENST00000650601.1:c.315+104A>G MANE Select | ENSP00000497529.1:n.315+104A>G | |
| ENST00000292901.7:c.315+104A>G | ENSP00000292901.3:n.315+104A>G | |
| ENST00000380299.3:c.315+104A>G | ENSP00000369654.3:n.315+104A>G | |
| ENST00000417377.1:c.92+455A>G | ENSP00000414741.1:n.92+455A>G | |
| NM_000519.3:c.315+104A>G | NP_000510.1:n.315+104A>G | |
| NM_000519.4:c.315+104A>G MANE Select | NP_000510.1:n.315+104A>G |