Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96281895C>T , CM000664.2:g.96281895C>T | GRCh38 |
| NC_000002.11:g.96947633C>T , CM000664.1:g.96947633C>T | GRCh37 |
| NC_000002.10:g.96311360C>T | NCBI36 |
| NG_016973.1:g.28665G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.4943G>A MANE Select | NP_054733.2:p.Arg1648Gln |
| ENST00000323853.10:c.4943G>A MANE Select | ENSP00000317123.5:p.Arg1648Gln |
| NM_014014.4:c.4943G>A | NP_054733.2:p.Arg1648Gln |
| ENST00000323853.9:c.4943G>A | ENSP00000317123.5:p.Arg1648Gln |
| ENST00000429650.1:c.524G>A | ENSP00000387870.1:p.Arg175Gln |
| ENST00000480242.1:n.2699G>A | |
| ENST00000493271.1:n.131G>A | |
| ENST00000497539.5:n.917G>A |