Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10610054T>C , CM000670.2:g.10610054T>C | GRCh38 |
| NC_000008.10:g.10467564T>C , CM000670.1:g.10467564T>C | GRCh37 |
| NC_000008.9:g.10504974T>C | NCBI36 |
| NG_028035.1:g.50054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.4044A>G MANE Select | ENSP00000371923.3:p.Gly1348= | |
| ENST00000382483.3:c.4044A>G | ENSP00000371923.3:p.Gly1348= | |
| NM_178857.5:c.4044A>G | NP_849188.4:p.Gly1348= | |
| NM_178857.6:c.4044A>G MANE Select | NP_849188.4:p.Gly1348= |