Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145284T= , CM000670.2:g.96145284T= | GRCh38 |
| NC_000008.10:g.97157512T= , CM000670.1:g.97157512T= | GRCh37 |
| NC_000008.9:g.97226688T= | NCBI36 |
| NG_008981.1:g.20509A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.647A= MANE Select | ENSP00000287020.4:p.Asp216= | |
| ENST00000287020.6:c.647A= | ENSP00000287020.4:p.Asp216= | |
| ENST00000620978.1:c.647A= | ENSP00000480170.1:p.Asp216= | |
| ENST00000621429.1:c.647A= | ENSP00000483711.1:p.Asp216= | |
| NM_001001557.2:c.647A= | NP_001001557.1:p.Asp216= | |
| XM_011517030.1:c.248A= | XP_011515332.1:p.Asp83= | |
| NM_001001557.3:c.647A= | NP_001001557.1:p.Asp216= | |
| NM_001001557.4:c.647A= MANE Select | NP_001001557.1:p.Asp216= |