Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83914986A>C , CM000678.2:g.83914986A>C | GRCh38 |
| NC_000016.9:g.83948591A>C , CM000678.1:g.83948591A>C | GRCh37 |
| NC_000016.8:g.82506092A>C | NCBI36 |
| NG_009079.1:g.20862A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262430.6:c.979A>C MANE Select | ENSP00000262430.4:p.Ser327Arg | |
| ENST00000262430.5:c.979A>C | ENSP00000262430.4:p.Ser327Arg | |
| ENST00000561562.5:c.301+2619A>C | ||
| ENST00000563312.5:c.258+2619A>C | ENSP00000477143.1:n.258+2619A>C | |
| ENST00000566309.2:c.258+2619A>C | ENSP00000476300.1:n.258+2619A>C | |
| ENST00000569024.1:n.3304A>C | ||
| NM_012213.2:c.979A>C | NP_036345.2:p.Ser327Arg | |
| NM_012213.3:c.979A>C MANE Select | NP_036345.2:p.Ser327Arg |