Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622967G= , CM000670.2:g.10622967G= | GRCh38 |
| NC_000008.10:g.10480477G= , CM000670.1:g.10480477G= | GRCh37 |
| NC_000008.9:g.10517887G= | NCBI36 |
| NG_028035.1:g.37141C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.235C= MANE Select | NP_849188.4:p.Arg79= |
| ENST00000382483.4:c.235C= MANE Select | ENSP00000371923.3:p.Arg79= |
| NM_178857.5:c.235C= | NP_849188.4:p.Arg79= |
| ENST00000329335.3:n.485C= | |
| ENST00000382483.3:c.235C= | ENSP00000371923.3:p.Arg79= |