Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97599746C>A , CM000672.2:g.97599746C>A | GRCh38 |
| NC_000010.10:g.99359503C>A , CM000672.1:g.99359503C>A | GRCh37 |
| NC_000010.9:g.99349493C>A | NCBI36 |
| NG_027922.1:g.20402C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138413.4:c.535C>A MANE Select | NP_612422.2:p.Pro179Thr |
| ENST00000370646.9:c.535C>A MANE Select | ENSP00000359680.4:p.Pro179Thr |
| NM_001134670.1:c.212-2111C>A | NP_001128142.1:n.212-2111C>A |
| NM_001134670.2:c.212-2111C>A | NP_001128142.1:n.212-2111C>A |
| NM_138413.3:c.535C>A | NP_612422.2:p.Pro179Thr |
| ENST00000370646.8:c.535C>A | ENSP00000359680.4:p.Pro179Thr |
| ENST00000370647.8:c.212-2111C>A | ENSP00000359681.4:n.212-2111C>A |
| ENST00000370649.3:c.212-2111C>A | ENSP00000359683.3:n.212-2111C>A |
| ENST00000465608.1:n.1379C>A |