Revel Score:
ENST00000334232 (MANE Select)
0.758
ENST00000359362
0.758
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482366T>G , CM000663.2:g.236482366T>G | GRCh38 |
| NC_000001.10:g.236645666T>G , CM000663.1:g.236645666T>G | GRCh37 |
| NC_000001.9:g.234712289T>G | NCBI36 |
| NG_011566.1:g.92987T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.365T>G MANE Select | ENSP00000335076.4:p.Leu122Arg | |
| ENST00000359362.6:c.335T>G | ENSP00000352320.4:p.Leu112Arg | |
| ENST00000637660.1:c.299T>G | ENSP00000490347.1:p.Leu100Arg | |
| ENST00000642595.1:c.236-9371T>G | ENSP00000494458.1:n.236-9371T>G | |
| ENST00000334232.8:c.365T>G | ENSP00000335076.4:p.Leu122Arg | |
| ENST00000359362.5:c.335T>G | ENSP00000352320.4:p.Leu112Arg | |
| NM_080738.3:c.335T>G | NP_542776.1:p.Leu112Arg | |
| NM_145861.2:c.365T>G | NP_665860.2:p.Leu122Arg | |
| NM_080738.4:c.335T>G | NP_542776.1:p.Leu112Arg | |
| NM_145861.4:c.365T>G MANE Select | NP_665860.2:p.Leu122Arg |