COSMIC:
COSM148700 (not active)
Revel Score:
ENST00000321424 (MANE Select)
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50407777 (AFR)
Genomes Max Group AF
0.49802001 (AFR)
Exomes Max Group AF
0.5076425 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51457686A>G , CM000681.2:g.51457686A>G | GRCh38 |
| NC_000019.9:g.51960940A>G , CM000681.1:g.51960940A>G | GRCh37 |
| NC_000019.8:g.56652752A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321424.7:c.508T>C MANE Select | ENSP00000321077.2:p.Ser170Pro | |
| ENST00000340550.5:c.454+248T>C | ENSP00000339448.4:n.454+248T>C | |
| ENST00000430817.5:c.454+248T>C | ENSP00000389142.1:n.454+248T>C | |
| ENST00000597352.1:n.124T>C | ||
| NM_014442.2:c.508T>C | NP_055257.2:p.Ser170Pro | |
| XM_011526734.1:c.475T>C | XP_011525036.1:p.Ser159Pro | |
| XM_011526735.1:c.454+248T>C | XP_011525037.1:n.454+248T>C | |
| NM_001363548.1:c.454+248T>C | NP_001350477.1:n.454+248T>C | |
| XM_011526734.2:c.475T>C | XP_011525036.1:p.Ser159Pro | |
| NM_014442.3:c.508T>C MANE Select | NP_055257.2:p.Ser170Pro |