Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917591C= , CM000685.2:g.29917591C= | GRCh38 |
| NC_000023.10:g.29935708C= , CM000685.1:g.29935708C= | GRCh37 |
| NC_000023.9:g.29845629C= | NCBI36 |
| NG_008292.1:g.1335028C= | |
| NG_008292.2:g.1335028C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378993.6:c.906C= MANE Select | ENSP00000368278.1:p.Asp302= | |
| ENST00000302196.5:c.129C= | ENSP00000305200.5:p.Asp43= | |
| ENST00000378993.5:c.906C= | ENSP00000368278.1:p.Asp302= | |
| NM_014271.3:c.906C= | NP_055086.1:p.Asp302= | |
| XM_005274441.1:c.906C= | XP_005274498.1:p.Asp302= | |
| XM_011545445.1:c.906C= | XP_011543747.1:p.Asp302= | |
| XM_017029240.1:c.906C= | XP_016884729.1:p.Asp302= | |
| XM_017029241.1:c.528C= | XP_016884730.1:p.Asp176= | |
| NM_014271.4:c.906C= MANE Select | NP_055086.1:p.Asp302= |