Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23201811C>A , CM000670.2:g.23201811C>A | GRCh38 |
| NC_000008.10:g.23059324C>A , CM000670.1:g.23059324C>A | GRCh37 |
| NC_000008.9:g.23115269C>A | NCBI36 |
| NG_032107.1:g.28357G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003844.4:c.626G>T MANE Select | NP_003835.3:p.Arg209Ile |
| ENST00000221132.8:c.626G>T MANE Select | ENSP00000221132.3:p.Arg209Ile |
| NM_003844.3:c.626G>T | NP_003835.3:p.Arg209Ile |
| ENST00000221132.7:c.626G>T | ENSP00000221132.3:p.Arg209Ile |
| ENST00000524158.5:c.20G>T | ENSP00000428884.1:p.Arg7Ile |
| ENST00000613472.1:c.152G>T | ENSP00000480778.1:p.Arg51Ile |