Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23425970C>T , CM000676.2:g.23425970C>T | GRCh38 |
| NC_000014.8:g.23895179C>T , CM000676.1:g.23895179C>T | GRCh37 |
| NC_000014.7:g.22965019C>T | NCBI36 |
| NG_007884.1:g.14692G>A , LRG_384:g.14692G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.2156G>A MANE Select | NP_000248.2:p.Arg719Gln |
| ENST00000355349.4:c.2156G>A MANE Select | ENSP00000347507.3:p.Arg719Gln |
| NM_000257.3:c.2156G>A | NP_000248.2:p.Arg719Gln |
| ENST00000355349.3:c.2156G>A | ENSP00000347507.3:p.Arg719Gln |
| XM_017021340.1:c.2156G>A | XP_016876829.1:p.Arg719Gln |
| XR_245686.3:n.2262G>A |