Revel Score:
ENST00000398015 (MANE Select)
0.451
ENST00000474732
0.451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134951680A>C , CM000665.2:g.134951680A>C | GRCh38 |
| NC_000003.11:g.134670522A>C , CM000665.1:g.134670522A>C | GRCh37 |
| NC_000003.10:g.136153212A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398015.8:c.433A>C MANE Select | ENSP00000381097.3:p.Ser145Arg | |
| ENST00000647596.1:c.433A>C | ENSP00000497153.1:p.Ser145Arg | |
| ENST00000398015.7:c.433A>C | ENSP00000381097.3:p.Ser145Arg | |
| ENST00000474732.1:c.367A>C | ENSP00000418352.1:p.Ser123Arg | |
| ENST00000482618.5:c.433A>C | ENSP00000420338.1:p.Ser145Arg | |
| ENST00000488154.5:n.433A>C | ||
| NM_004441.4:c.433A>C | NP_004432.1:p.Ser145Arg | |
| XM_011512540.1:c.415A>C | XP_011510842.1:p.Ser139Arg | |
| XM_011512541.1:c.367A>C | XP_011510843.1:p.Ser123Arg | |
| XM_017005866.2:c.433A>C | XP_016861355.1:p.Ser145Arg | |
| XM_017005867.1:c.415A>C | XP_016861356.1:p.Ser139Arg | |
| XM_024453389.1:c.367A>C | XP_024309157.1:p.Ser123Arg | |
| XM_024453390.1:c.367A>C | XP_024309158.1:p.Ser123Arg | |
| NM_004441.5:c.433A>C MANE Select | NP_004432.1:p.Ser145Arg |