Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875910C>G , CM000681.2:g.48875910C>G | GRCh38 |
| NC_000019.9:g.49379167C>G , CM000681.1:g.49379167C>G | GRCh37 |
| NC_000019.8:g.54070979C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*817C>G | ENSP00000469239.2:n.*817C>G | |
| ENST00000704026.1:c.1677C>G | ENSP00000515636.1:p.Ala559= | |
| ENST00000704027.1:c.2010C>G | ENSP00000515637.1:p.Ala670= | |
| ENST00000200453.6:c.1962C>G MANE Select | ENSP00000200453.4:p.Ala654= | |
| ENST00000200453.5:c.1962C>G | ENSP00000200453.4:p.Ala654= | |
| ENST00000600406.1:c.1593C>G | ||
| NM_014330.3:c.1962C>G | NP_055145.3:p.Ala654= | |
| NM_014330.5:c.1962C>G MANE Select | NP_055145.3:p.Ala654= |