ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000334909
0.804
ENST00000352480 (MANE Select)
0.804
ENST00000372394
0.804
ENST00000372393
0.804
ENST00000372386
0.804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489413C>A , CM000671.2:g.130489413C>A | GRCh38 |
| NC_000009.11:g.133364800C>A , CM000671.1:g.133364800C>A | GRCh37 |
| NC_000009.10:g.132354621C>A | NCBI36 |
| NG_011542.1:g.49707C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.919C>A MANE Select | ENSP00000253004.6:p.Arg307Ser | |
| ENST00000352480.9:c.919C>A | ENSP00000253004.6:p.Arg307Ser | |
| ENST00000372386.6:n.190C>A | ||
| ENST00000372393.7:c.919C>A | ENSP00000361469.2:p.Arg307Ser | |
| ENST00000372394.5:c.919C>A | ENSP00000361471.1:p.Arg307Ser | |
| ENST00000470849.4:n.644C>A | ||
| ENST00000492400.5:n.428C>A | ||
| NM_000050.4:c.919C>A | NP_000041.2:p.Arg307Ser | |
| NM_054012.3:c.919C>A | NP_446464.1:p.Arg307Ser | |
| XM_005272200.2:c.919C>A | XP_005272257.1:p.Arg307Ser | |
| XM_011518705.1:c.1033C>A | XP_011517007.1:p.Arg345Ser | |
| XM_005272200.3:c.919C>A | XP_005272257.1:p.Arg307Ser | |
| XM_011518705.2:c.1033C>A | XP_011517007.1:p.Arg345Ser | |
| XM_017014729.1:c.1015C>A | XP_016870218.1:p.Arg339Ser | |
| NM_054012.4:c.919C>A MANE Select | NP_446464.1:p.Arg307Ser |