Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272700G= , CM000676.2:g.91272700G= | GRCh38 |
| NC_000014.8:g.91739044G= , CM000676.1:g.91739044G= | GRCh37 |
| NC_000014.7:g.90808797G= | NCBI36 |
| NG_033118.1:g.150145C= | |
| NG_033118.2:g.150145C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6012C= MANE Select | ENSP00000374507.6:p.Val2004= | |
| ENST00000331194.8:c.1446C= | ENSP00000330332.8:p.Val482= | |
| ENST00000389857.10:c.6012C= | ENSP00000374507.6:p.Val2004= | |
| ENST00000556726.5:c.2240C= | ||
| NM_001080414.3:c.6012C= | NP_001073883.2:p.Val2004= | |
| XM_011536796.1:c.5904C= | XP_011535098.1:p.Val1968= | |
| XM_011536796.2:c.5904C= | XP_011535098.1:p.Val1968= | |
| XM_017021336.1:c.3093C= | XP_016876825.1:p.Val1031= | |
| NM_001080414.4:c.6012C= MANE Select | NP_001073883.2:p.Val2004= |