Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284797G>C , CM000673.2:g.89284797G>C | GRCh38 |
| NC_000011.9:g.89017965G>C , CM000673.1:g.89017965G>C | GRCh37 |
| NC_000011.8:g.88657613G>C | NCBI36 |
| NG_008748.1:g.111926G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.1209G>C MANE Select | NP_000363.1:p.Arg403Ser |
| ENST00000263321.6:c.1209G>C MANE Select | ENSP00000263321.4:p.Arg403Ser |
| NM_000372.4:c.1209G>C | NP_000363.1:p.Arg403Ser |
| ENST00000263321.5:c.1209G>C | ENSP00000263321.4:p.Arg403Ser |
| ENST00000528243.1:n.207G>C | |
| XM_011542970.1:c.1209G>C | XP_011541272.1:p.Arg403Ser |
| XM_011542970.2:c.1209G>C | XP_011541272.1:p.Arg403Ser |
| XR_001748321.1:n.2456+1237C>G | |
| XR_001748322.1:n.2457+1237C>G |