Revel Score:
ENST00000543200
0.870
ENST00000258385 (MANE Select)
0.870
ENST00000457943
0.870
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00177322 (NFE)
Genomes Max Group AF
0.00111611 (NFE)
Exomes Max Group AF
0.00196313 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232531450C>T , CM000664.2:g.232531450C>T | GRCh38 |
| NC_000002.11:g.233396160C>T , CM000664.1:g.233396160C>T | GRCh37 |
| NC_000002.10:g.233104404C>T | NCBI36 |
| NG_008028.1:g.10239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.919C>T MANE Select | ENSP00000258385.3:p.Pro307Ser | |
| ENST00000258385.7:c.919C>T | ENSP00000258385.3:p.Pro307Ser | |
| ENST00000412233.5:c.*92C>T | ENSP00000398143.1:n.*92C>T | |
| ENST00000441621.6:c.*101C>T | ENSP00000408819.2:n.*101C>T | |
| ENST00000446616.1:c.*560C>T | ENSP00000410801.1:n.*560C>T | |
| ENST00000543200.5:c.874C>T | ENSP00000438380.1:p.Pro292Ser | |
| NM_000751.2:c.919C>T | NP_000742.1:p.Pro307Ser | |
| NM_001256657.1:c.874C>T | NP_001243586.1:p.Pro292Ser | |
| NM_001311195.1:c.337C>T | NP_001298124.1:p.Pro113Ser | |
| NM_001311196.1:c.616C>T | NP_001298125.1:p.Pro206Ser | |
| NR_046333.1:c.-4294966632C>T | ||
| NR_046334.1:c.-4294966353C>T | ||
| XM_011510524.1:c.538C>T | XP_011508826.1:p.Pro180Ser | |
| XM_011510524.2:c.538C>T | XP_011508826.1:p.Pro180Ser | |
| NM_000751.3:c.919C>T MANE Select | NP_000742.1:p.Pro307Ser | |
| NM_001311195.2:c.337C>T | NP_001298124.1:p.Pro113Ser | |
| NM_001311196.2:c.616C>T | NP_001298125.1:p.Pro206Ser | |
| NM_001256657.2:c.874C>T | NP_001243586.1:p.Pro292Ser |