Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739354T>C , CM000673.2:g.46739354T>C | GRCh38 |
| NC_000011.9:g.46760904T>C , CM000673.1:g.46760904T>C | GRCh37 |
| NC_000011.8:g.46717480T>C | NCBI36 |
| NG_008953.1:g.25162T>C , LRG_551:g.25162T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000506.5:c.1815T>C MANE Select | NP_000497.1:p.His605= |
| ENST00000311907.10:c.1815T>C MANE Select | ENSP00000308541.5:p.His605= |
| NM_000506.3:c.1815T>C | NP_000497.1:p.His605= |
| NM_000506.4:c.1815T>C , LRG_551t1:c.1815T>C | NP_000497.1:p.His605= |
| NM_001311257.1:c.1767T>C | NP_001298186.1:p.His589= |
| NM_001311257.2:c.1767T>C | NP_001298186.1:p.His589= |
| ENST00000311907.9:c.1815T>C | ENSP00000308541.5:p.His605= |
| ENST00000530231.5:c.1698T>C | ENSP00000433907.1:p.His566= |
| XR_428840.2:n.1677T>C | |
| XR_428840.4:n.1668T>C |