Revel Score:
ENST00000229554 (MANE Select)
0.163
ENST00000447842
0.163
ENST00000368580
0.163
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.002491 (MID)
Genomes Max Group AF
0.00108295 (AMR)
Exomes Max Group AF
0.00247517 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116632280C>T , CM000668.2:g.116632280C>T | GRCh38 |
| NC_000006.11:g.116953443C>T , CM000668.1:g.116953443C>T | GRCh37 |
| NC_000006.10:g.117060136C>T | NCBI36 |
| NG_012934.1:g.20802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1990C>T MANE Select | ENSP00000229554.5:p.Pro664Ser | |
| ENST00000229554.9:c.1990C>T | ENSP00000229554.5:p.Pro664Ser | |
| ENST00000368580.4:c.1249C>T | ENSP00000357569.4:p.Pro417Ser | |
| ENST00000368581.8:c.*51C>T | ENSP00000357570.4:n.*51C>T | |
| NM_001010892.2:c.1990C>T | NP_001010892.1:p.Pro664Ser | |
| NM_001161664.1:c.*51C>T | NP_001155136.1:n.*51C>T | |
| XM_006715469.2:c.*51C>T | XP_006715532.1:n.*51C>T | |
| XM_011535791.1:c.1990C>T | XP_011534093.1:p.Pro664Ser | |
| XM_011535792.1:c.1990C>T | XP_011534094.1:p.Pro664Ser | |
| XR_942416.1:n.4891C>T | ||
| XM_017010826.1:c.*51C>T | XP_016866315.1:n.*51C>T | |
| NM_001010892.3:c.1990C>T MANE Select | NP_001010892.1:p.Pro664Ser | |
| NM_001161664.2:c.*51C>T | NP_001155136.1:n.*51C>T |