Revel Score:
ENST00000337554 (MANE Select)
0.535
ENST00000329563
0.535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162830G>A , CM000684.2:g.43162830G>A | GRCh38 |
| NC_000022.10:g.43558836G>A , CM000684.1:g.43558836G>A | GRCh37 |
| NC_000022.9:g.41888780G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.349G>A MANE Select | ENSP00000338004.3:p.Gly117Arg | |
| ENST00000329563.8:c.349G>A | ENSP00000328973.4:p.Gly117Arg | |
| ENST00000337554.7:c.349G>A | ENSP00000338004.3:p.Gly117Arg | |
| ENST00000396265.4:c.349G>A | ENSP00000379563.4:p.Gly117Arg | |
| ENST00000583777.5:c.37G>A | ENSP00000463495.1:p.Gly13Arg | |
| NM_000714.5:c.349G>A | NP_000705.2:p.Gly117Arg | |
| NM_001256530.1:c.349G>A | NP_001243459.1:p.Gly117Arg | |
| NM_001256531.1:c.349G>A | NP_001243460.1:p.Gly117Arg | |
| NR_046308.1:n.258G>A | ||
| NM_000714.6:c.349G>A MANE Select | NP_000705.2:p.Gly117Arg | |
| NR_046308.2:n.213G>A |