Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273461C>T , CM000676.2:g.91273461C>T | GRCh38 |
| NC_000014.8:g.91739805C>T , CM000676.1:g.91739805C>T | GRCh37 |
| NC_000014.7:g.90809558C>T | NCBI36 |
| NG_033118.1:g.149384G>A | |
| NG_033118.2:g.149384G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080414.4:c.5251G>A MANE Select | NP_001073883.2:p.Val1751Ile |
| ENST00000389857.11:c.5251G>A MANE Select | ENSP00000374507.6:p.Val1751Ile |
| NM_001080414.3:c.5251G>A | NP_001073883.2:p.Val1751Ile |
| ENST00000331194.8:c.823G>A | ENSP00000330332.8:p.Val275Ile |
| ENST00000389857.10:c.5251G>A | ENSP00000374507.6:p.Val1751Ile |
| ENST00000556726.5:c.1479G>A | |
| XM_011536796.1:c.5143G>A | XP_011535098.1:p.Val1715Ile |
| XM_011536796.2:c.5143G>A | XP_011535098.1:p.Val1715Ile |
| XM_017021336.1:c.2332G>A | XP_016876825.1:p.Val778Ile |