Revel Score:
ENST00000331134 (MANE Select)
0.632
ENST00000374747
0.632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81629798C>A , CM000679.2:g.81629798C>A | GRCh38 |
| NC_000017.10:g.79596824C>A , CM000679.1:g.79596824C>A | GRCh37 |
| NC_000017.9:g.77207229C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705719.1:c.152G>T | ENSP00000516165.1:p.Arg51Leu | |
| ENST00000331134.11:c.23G>T MANE Select | ENSP00000331487.5:p.Arg8Leu | |
| ENST00000331134.10:c.23G>T | ENSP00000331487.5:p.Arg8Leu | |
| ENST00000374747.9:c.23G>T | ENSP00000363879.5:p.Arg8Leu | |
| ENST00000570300.1:n.44G>T | ||
| ENST00000574897.5:c.23G>T | ENSP00000461543.1:p.Arg8Leu | |
| ENST00000625705.1:c.20G>T | ENSP00000486640.1:p.Arg7Leu | |
| NM_017921.3:c.23G>T | NP_060391.2:p.Arg8Leu | |
| XM_011524979.1:c.23G>T | XP_011523281.1:p.Arg8Leu | |
| XM_011524980.1:c.23G>T | XP_011523282.1:p.Arg8Leu | |
| XM_011524981.1:c.23G>T | XP_011523283.1:p.Arg8Leu | |
| XM_011524982.1:c.23G>T | XP_011523284.1:p.Arg8Leu | |
| XR_934501.1:n.241G>T | ||
| XR_934502.1:n.241G>T | ||
| XM_011524982.2:c.23G>T | XP_011523284.1:p.Arg8Leu | |
| XR_001752557.1:n.241G>T | ||
| NM_017921.4:c.23G>T MANE Select | NP_060391.2:p.Arg8Leu | |
| NM_001369698.1:c.23G>T | NP_001356627.1:p.Arg8Leu |