Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97079071C= , CM000663.2:g.97079071C= | GRCh38 |
| NC_000001.10:g.97544627C= , CM000663.1:g.97544627C= | GRCh37 |
| NC_000001.9:g.97317215C= | NCBI36 |
| NG_008807.2:g.846989G= , LRG_722:g.846989G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000110.4:c.2983G= MANE Select | NP_000101.2:p.Val995= |
| ENST00000370192.8:c.2983G= MANE Select | ENSP00000359211.3:p.Val995= |
| NM_000110.3:c.2983G= , LRG_722t1:c.2983G= | NP_000101.2:p.Val995= |
| ENST00000370192.7:c.2983G= | ENSP00000359211.3:p.Val995= |
| XM_005270562.3:c.2767G= | XP_005270619.2:p.Val923= |
| XM_017000507.1:c.2872G= | XP_016855996.1:p.Val958= |
| XM_017000508.2:c.2488G= | XP_016855997.1:p.Val830= |
| XM_017000509.2:c.2488G= | XP_016855998.1:p.Val830= |
| XM_017000510.1:c.2488G= | XP_016855999.1:p.Val830= |