Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293237G>A , CM000684.2:g.45293237G>A | GRCh38 |
| NC_000022.10:g.45689118G>A , CM000684.1:g.45689118G>A | GRCh37 |
| NC_000022.9:g.44067782G>A | NCBI36 |
| NG_016203.1:g.13251G>A | |
| NG_016203.2:g.13251G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006953.4:c.628G>A MANE Select | NP_008884.1:p.Val210Ile |
| ENST00000216211.9:c.628G>A MANE Select | ENSP00000216211.4:p.Val210Ile |
| NM_001167574.1:c.265G>A | NP_001161046.1:p.Val89Ile |
| NM_001167574.2:c.265G>A | NP_001161046.1:p.Val89Ile |
| NM_006953.3:c.628G>A | NP_008884.1:p.Val210Ile |
| ENST00000216211.8:c.628G>A | ENSP00000216211.4:p.Val210Ile |
| ENST00000396082.2:c.265G>A | ENSP00000379391.2:p.Val89Ile |
| XM_011530364.1:c.634G>A | XP_011528666.1:p.Val212Ile |
| XM_011530365.1:c.271G>A | XP_011528667.1:p.Val91Ile |