Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107947388A= , CM000666.2:g.107947388A= | GRCh38 |
| NC_000004.11:g.108868544A= , CM000666.1:g.108868544A= | GRCh37 |
| NC_000004.10:g.109087993A= | NCBI36 |
| NG_007961.1:g.20828A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1139A= MANE Select | NP_898898.1:p.Glu380= |
| ENST00000332884.11:c.1139A= MANE Select | ENSP00000333212.6:p.Glu380= |
| NM_183075.2:c.1139A= | NP_898898.1:p.Glu380= |
| ENST00000332884.10:c.1139A= | ENSP00000333212.6:p.Glu380= |
| ENST00000508453.1:c.512A= | ENSP00000423667.1:p.Glu171= |
| XM_005262717.2:c.1193A= | XP_005262774.1:p.Glu398= |
| XM_005262720.2:c.503A= | XP_005262777.1:p.Glu168= |
| XR_001741783.1:n.156-36839T= | |
| XR_001741784.1:n.530+31332T= |