Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118670C>G , CM000676.2:g.50118670C>G | GRCh38 |
| NC_000014.8:g.50585388C>G , CM000676.1:g.50585388C>G | GRCh37 |
| NC_000014.7:g.49655138C>G | NCBI36 |
| NG_051073.1:g.118024G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3673G>C MANE Select | NP_008870.2:p.Glu1225Gln |
| ENST00000216373.10:c.3673G>C MANE Select | ENSP00000216373.5:p.Glu1225Gln |
| NM_006939.2:c.3673G>C | NP_008870.2:p.Glu1225Gln |
| NM_006939.3:c.3673G>C | NP_008870.2:p.Glu1225Gln |
| ENST00000216373.9:c.3673G>C | ENSP00000216373.5:p.Glu1225Gln |
| ENST00000543680.5:c.3574G>C | ENSP00000445328.1:p.Glu1192Gln |
| XM_005268021.1:c.3493G>C | XP_005268078.1:p.Glu1165Gln |
| XM_011537103.1:c.3634G>C | XP_011535405.1:p.Glu1212Gln |