Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411898C= , CM000685.2:g.38411898C= | GRCh38 |
| NC_000023.10:g.38271151C= , CM000685.1:g.38271151C= | GRCh37 |
| NC_000023.9:g.38156095C= | NCBI36 |
| NG_008471.1:g.64416C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.904C= MANE Select | ENSP00000039007.4:p.His302= | |
| ENST00000643344.1:c.*654C= | ENSP00000496606.1:n.*654C= | |
| ENST00000039007.4:c.904C= | ENSP00000039007.4:p.His302= | |
| ENST00000465127.1:c.172-254223C= | ENSP00000417050.1:n.172-254223C= | |
| NM_000531.5:c.904C= | NP_000522.3:p.His302= | |
| NM_000531.6:c.904C= MANE Select | NP_000522.3:p.His302= |