Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524089C>G , CM000682.2:g.49524089C>G | GRCh38 |
| NC_000020.10:g.48140626C>G , CM000682.1:g.48140626C>G | GRCh37 |
| NC_000020.9:g.47574033C>G | NCBI36 |
| NG_007940.1:g.49082G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.824G>C MANE Select | NP_000952.1:p.Arg275Pro |
| ENST00000244043.5:c.824G>C MANE Select | ENSP00000244043.3:p.Arg275Pro |
| NM_000961.3:c.824G>C | NP_000952.1:p.Arg275Pro |
| ENST00000244043.4:c.824G>C | ENSP00000244043.3:p.Arg275Pro |
| ENST00000478971.1:n.645G>C |