Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83912241A>C , CM000678.2:g.83912241A>C | GRCh38 |
| NC_000016.9:g.83945846A>C , CM000678.1:g.83945846A>C | GRCh37 |
| NC_000016.8:g.82503347A>C | NCBI36 |
| NG_009079.1:g.18117A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.822A>C MANE Select | NP_036345.2:p.Pro274= |
| ENST00000262430.6:c.822A>C MANE Select | ENSP00000262430.4:p.Pro274= |
| NM_012213.2:c.822A>C | NP_036345.2:p.Pro274= |
| ENST00000262430.5:c.822A>C | ENSP00000262430.4:p.Pro274= |
| ENST00000561562.5:c.175A>C | |
| ENST00000563312.5:c.132A>C | ENSP00000477143.1:p.Pro44= |
| ENST00000566309.2:c.132A>C | ENSP00000476300.1:p.Pro44= |
| ENST00000569024.1:n.559A>C |