Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340110T>C , CM000667.2:g.146340110T>C | GRCh38 |
| NC_000005.9:g.145719673T>C , CM000667.1:g.145719673T>C | GRCh37 |
| NC_000005.8:g.145699866T>C | NCBI36 |
| NG_011885.1:g.6087T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.683T>C MANE Select | ENSP00000495718.1:p.Ile228Thr | |
| ENST00000230732.4:c.683T>C | ENSP00000230732.4:p.Ile228Thr | |
| NM_002700.2:c.683T>C | NP_002691.1:p.Ile228Thr | |
| NM_002700.3:c.683T>C MANE Select | NP_002691.1:p.Ile228Thr |