Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346769G>C , CM000673.2:g.66346769G>C | GRCh38 |
| NC_000011.9:g.66114240G>C , CM000673.1:g.66114240G>C | GRCh37 |
| NC_000011.8:g.65870816G>C | NCBI36 |
| NG_033202.1:g.5922C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.777C>G MANE Select | ENSP00000309096.4:p.Ala259= | |
| ENST00000311181.4:c.777C>G | ENSP00000309096.4:p.Ala259= | |
| NM_006876.2:c.777C>G | NP_006867.1:p.Ala259= | |
| NM_006876.3:c.777C>G MANE Select | NP_006867.1:p.Ala259= |