Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340116G>C , CM000667.2:g.146340116G>C | GRCh38 |
| NC_000005.9:g.145719679G>C , CM000667.1:g.145719679G>C | GRCh37 |
| NC_000005.8:g.145699872G>C | NCBI36 |
| NG_011885.1:g.6093G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.689G>C MANE Select | ENSP00000495718.1:p.Arg230Thr | |
| ENST00000230732.4:c.689G>C | ENSP00000230732.4:p.Arg230Thr | |
| NM_002700.2:c.689G>C | NP_002691.1:p.Arg230Thr | |
| NM_002700.3:c.689G>C MANE Select | NP_002691.1:p.Arg230Thr |