Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955720C>G , CM000670.2:g.24955720C>G | GRCh38 |
| NC_000008.10:g.24813234C>G , CM000670.1:g.24813234C>G | GRCh37 |
| NC_000008.9:g.24869151C>G | NCBI36 |
| NG_008492.1:g.5898G>C , LRG_259:g.5898G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.796G>C MANE Select | NP_006149.2:p.Glu266Gln |
| ENST00000610854.2:c.796G>C MANE Select | ENSP00000482169.2:p.Glu266Gln |
| NM_006158.4:c.796G>C , LRG_259t1:c.796G>C | NP_006149.2:p.Glu266Gln |
| ENST00000610854.1:c.796G>C | ENSP00000482169.1:p.Glu266Gln |
| ENST00000615973.1:n.1002G>C | |
| ENST00000619417.1:c.593-76G>C | ENSP00000483690.1:n.593-76G>C |