Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83915399C>T , CM000678.2:g.83915399C>T | GRCh38 |
| NC_000016.9:g.83949004C>T , CM000678.1:g.83949004C>T | GRCh37 |
| NC_000016.8:g.82506505C>T | NCBI36 |
| NG_009079.1:g.21275C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.1392C>T MANE Select | NP_036345.2:p.Asn464= |
| ENST00000262430.6:c.1392C>T MANE Select | ENSP00000262430.4:p.Asn464= |
| NM_012213.2:c.1392C>T | NP_036345.2:p.Asn464= |
| ENST00000262430.5:c.1392C>T | ENSP00000262430.4:p.Asn464= |
| ENST00000561562.5:c.301+3032C>T | |
| ENST00000563312.5:c.258+3032C>T | ENSP00000477143.1:n.258+3032C>T |
| ENST00000566309.2:c.258+3032C>T | ENSP00000476300.1:n.258+3032C>T |
| ENST00000569024.1:n.3717C>T |