Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75784694C>G , CM000685.2:g.75784694C>G | GRCh38 |
| NC_000023.10:g.75004529C>G , CM000685.1:g.75004529C>G | GRCh37 |
| NC_000023.9:g.74921254C>G | NCBI36 |
| NG_021324.1:g.5551G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138703.5:c.358G>C MANE Select | NP_619648.1:p.Glu120Gln |
| ENST00000373359.4:c.358G>C MANE Select | ENSP00000362457.2:p.Glu120Gln |
| NM_138703.4:c.358G>C | NP_619648.1:p.Glu120Gln |
| ENST00000373359.3:c.358G>C | ENSP00000362457.2:p.Glu120Gln |
| XR_001755892.1:n.449-6598C>G | |
| XR_001755894.1:n.449-6988C>G |