Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178018G>C , CM000673.2:g.89178018G>C | GRCh38 |
| NC_000011.9:g.88911186G>C , CM000673.1:g.88911186G>C | GRCh37 |
| NC_000011.8:g.88550834G>C | NCBI36 |
| NG_008748.1:g.5147G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.65G>C MANE Select | NP_000363.1:p.Arg22Thr |
| ENST00000263321.6:c.65G>C MANE Select | ENSP00000263321.4:p.Arg22Thr |
| NM_000372.4:c.65G>C | NP_000363.1:p.Arg22Thr |
| ENST00000263321.5:c.65G>C | ENSP00000263321.4:p.Arg22Thr |
| ENST00000526139.1:n.126G>C | |
| XM_011542970.1:c.65G>C | XP_011541272.1:p.Arg22Thr |
| XM_011542970.2:c.65G>C | XP_011541272.1:p.Arg22Thr |
| XR_001748321.1:n.2718-64485C>G | |
| XR_001748322.1:n.2733-64485C>G |