Revel Score:
ENST00000297268 (MANE Select)
0.405
ENST00000545487
0.405
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00078272 (NFE)
Genomes Max Group AF
0.00076859 (NFE)
Exomes Max Group AF
0.00077395 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404580C>T , CM000669.2:g.94404580C>T | GRCh38 |
| NC_000007.13:g.94033892C>T , CM000669.1:g.94033892C>T | GRCh37 |
| NC_000007.12:g.93871828C>T | NCBI36 |
| NG_007405.1:g.15020C>T , LRG_2:g.15020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.304C>T MANE Select | ENSP00000297268.6:p.Pro102Ser | |
| ENST00000297268.10:c.304C>T | ENSP00000297268.6:p.Pro102Ser | |
| ENST00000620463.1:c.298C>T | ENSP00000477719.1:p.Pro100Ser | |
| NM_000089.3:c.304C>T , LRG_2t1:c.304C>T | NP_000080.2:p.Pro102Ser | |
| NM_000089.4:c.304C>T MANE Select | NP_000080.2:p.Pro102Ser |