Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83908174C>T , CM000678.2:g.83908174C>T | GRCh38 |
| NC_000016.9:g.83941779C>T , CM000678.1:g.83941779C>T | GRCh37 |
| NC_000016.8:g.82499280C>T | NCBI36 |
| NG_009079.1:g.14050C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.690C>T MANE Select | NP_036345.2:p.Arg230= |
| ENST00000262430.6:c.690C>T MANE Select | ENSP00000262430.4:p.Arg230= |
| NM_012213.2:c.690C>T | NP_036345.2:p.Arg230= |
| ENST00000262430.5:c.690C>T | ENSP00000262430.4:p.Arg230= |
| ENST00000561562.5:c.43C>T |