Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659264A= , CM000685.2:g.136659264A= | GRCh38 |
| NC_000023.10:g.135741423A= , CM000685.1:g.135741423A= | GRCh37 |
| NC_000023.9:g.135569089A= | NCBI36 |
| NG_007280.1:g.16088A= , LRG_141:g.16088A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*253A= | ENSP00000512122.1:n.*253A= | |
| ENST00000695725.1:c.*190A= | ENSP00000512123.1:n.*190A= | |
| ENST00000695726.1:n.2603A= | ||
| ENST00000695729.1:n.3438A= | ||
| ENST00000370629.7:c.635A= MANE Select | ENSP00000359663.2:p.His212= | |
| ENST00000370628.2:c.572A= | ENSP00000359662.2:p.His191= | |
| ENST00000370629.6:c.635A= | ENSP00000359663.2:p.His212= | |
| NM_000074.2:c.635A= , LRG_141t1:c.635A= | NP_000065.1:p.His212= | |
| NM_000074.3:c.635A= MANE Select | NP_000065.1:p.His212= |