Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504300C>G , CM000681.2:g.39504300C>G | GRCh38 |
| NC_000019.9:g.39994940C>G , CM000681.1:g.39994940C>G | GRCh37 |
| NC_000019.8:g.44686780C>G | NCBI36 |
| NG_008256.1:g.10384C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.870+12C>G MANE Select | ENSP00000348810.4:n.870+12C>G | |
| ENST00000205143.4:c.870+12C>G | ENSP00000205143.3:n.870+12C>G | |
| ENST00000356433.9:c.870+12C>G | ENSP00000348810.4:n.870+12C>G | |
| ENST00000596614.5:c.410-2739C>G | ENSP00000471688.1:n.410-2739C>G | |
| ENST00000600437.1:n.950+12C>G | ||
| NM_016941.3:c.870+12C>G | NP_058637.1:n.870+12C>G | |
| NM_203486.2:c.870+12C>G | NP_982353.1:n.870+12C>G | |
| NM_016941.4:c.870+12C>G | NP_058637.1:n.870+12C>G | |
| NM_203486.3:c.870+12C>G MANE Select | NP_982353.1:n.870+12C>G |