Revel Score:
ENST00000297268 (MANE Select)
0.315
ENST00000545487
0.315
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00085339 (SAS)
Genomes Max Group AF
0.00054219 (SAS)
Exomes Max Group AF
0.00083719 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426011C>T , CM000669.2:g.94426011C>T | GRCh38 |
| NC_000007.13:g.94055323C>T , CM000669.1:g.94055323C>T | GRCh37 |
| NC_000007.12:g.93893259C>T | NCBI36 |
| NG_007405.1:g.36451C>T , LRG_2:g.36451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2957C>T MANE Select | ENSP00000297268.6:p.Pro986Leu | |
| ENST00000297268.10:c.2957C>T | ENSP00000297268.6:p.Pro986Leu | |
| ENST00000478215.1:n.516C>T | ||
| ENST00000481570.5:n.2930C>T | ||
| ENST00000620463.1:c.2951C>T | ENSP00000477719.1:p.Pro984Leu | |
| NM_000089.3:c.2957C>T , LRG_2t1:c.2957C>T | NP_000080.2:p.Pro986Leu | |
| NM_000089.4:c.2957C>T MANE Select | NP_000080.2:p.Pro986Leu |