Revel Score:
ENST00000422247
0.228
ENST00000257287 (MANE Select)
0.228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55953202A>C , CM000666.2:g.55953202A>C | GRCh38 |
| NC_000004.11:g.56819368A>C , CM000666.1:g.56819368A>C | GRCh37 |
| NC_000004.10:g.56514125A>C | NCBI36 |
| NG_032806.1:g.9395A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706800.1:n.404A>C | ||
| ENST00000257287.5:c.231A>C MANE Select | ENSP00000257287.3:p.Arg77Ser | |
| ENST00000257287.4:c.231A>C | ENSP00000257287.3:p.Arg77Ser | |
| ENST00000422247.6:c.231A>C | ENSP00000412799.2:p.Arg77Ser | |
| NM_025009.4:c.231A>C | NP_079285.2:p.Arg77Ser | |
| XM_006714055.2:c.231A>C | XP_006714118.1:p.Arg77Ser | |
| XR_941064.1:n.472-731T>G | ||
| XM_005265788.4:c.-837A>C | XP_005265845.1:n.-837A>C | |
| XM_006714055.3:c.231A>C | XP_006714118.1:p.Arg77Ser | |
| NM_025009.5:c.231A>C MANE Select | NP_079285.2:p.Arg77Ser |