Revel Score:
ENST00000374552 (MANE Select)
0.697
ENST00000374553
0.697
ENST00000524573
0.697
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70033431G>T , CM000685.2:g.70033431G>T | GRCh38 |
| NC_000023.10:g.69253281G>T , CM000685.1:g.69253281G>T | GRCh37 |
| NC_000023.9:g.69170006G>T | NCBI36 |
| NG_009809.1:g.422371G>T | |
| NG_009809.2:g.422365G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.827G>T MANE Select | ENSP00000363680.4:p.Arg276Leu | |
| ENST00000374552.8:c.827G>T | ENSP00000363680.4:p.Arg276Leu | |
| ENST00000374553.6:c.827G>T | ENSP00000363681.2:p.Arg276Leu | |
| ENST00000524573.5:c.818G>T | ENSP00000432585.1:p.Arg273Leu | |
| ENST00000616899.1:c.431G>T | ENSP00000481963.1:p.Arg144Leu | |
| NM_001005609.1:c.827G>T | NP_001005609.1:p.Arg276Leu | |
| NM_001005612.2:c.818G>T | NP_001005612.2:p.Arg273Leu | |
| NM_001399.4:c.827G>T | NP_001390.1:p.Arg276Leu | |
| XM_006724630.2:c.818G>T | XP_006724693.1:p.Arg273Leu | |
| XM_011530885.1:c.827G>T | XP_011529187.1:p.Arg276Leu | |
| XM_011530885.2:c.827G>T | XP_011529187.1:p.Arg276Leu | |
| XM_017029336.1:c.827G>T | XP_016884825.1:p.Arg276Leu | |
| NM_001399.5:c.827G>T MANE Select | NP_001390.1:p.Arg276Leu | |
| NM_001005609.2:c.827G>T | NP_001005609.1:p.Arg276Leu | |
| NM_001005612.3:c.818G>T | NP_001005612.2:p.Arg273Leu |