COSMIC:
COSM5008347 (not active)
Revel Score:
ENST00000257290 (MANE Select)
0.088
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25295957 (AMR)
Genomes Max Group AF
0.22551582 (AFR)
Exomes Max Group AF
0.27070906 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54273604T>C , CM000666.2:g.54273604T>C | GRCh38 |
| NC_000004.11:g.55139771T>C , CM000666.1:g.55139771T>C | GRCh37 |
| NC_000004.10:g.54834528T>C | NCBI36 |
| NG_009250.1:g.49508T>C , LRG_309:g.49508T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.1432T>C MANE Select | ENSP00000257290.5:p.Ser478Pro | |
| ENST00000257290.9:c.1432T>C | ENSP00000257290.5:p.Ser478Pro | |
| ENST00000507166.5:c.1018-1321T>C | ENSP00000423325.1:n.1018-1321T>C | |
| ENST00000509092.5:n.1250T>C | ||
| ENST00000509490.5:c.1432T>C | ENSP00000424218.1:p.Ser478Pro | |
| NM_006206.4:c.1432T>C , LRG_309t1:c.1432T>C | NP_006197.1:p.Ser478Pro | |
| XM_005265743.1:c.1432T>C | XP_005265800.1:p.Ser478Pro | |
| XM_006714039.2:c.1507T>C | XP_006714102.1:p.Ser503Pro | |
| XM_006714041.2:c.1507T>C | XP_006714104.1:p.Ser503Pro | |
| XM_011534385.1:c.1432T>C | XP_011532687.1:p.Ser478Pro | |
| XM_011534386.1:c.1432T>C | XP_011532688.1:p.Ser478Pro | |
| NM_001347827.1:c.1432T>C | NP_001334756.1:p.Ser478Pro | |
| NM_001347828.1:c.1507T>C | NP_001334757.1:p.Ser503Pro | |
| NM_001347829.1:c.1432T>C | NP_001334758.1:p.Ser478Pro | |
| NM_001347830.1:c.1471T>C | NP_001334759.1:p.Ser491Pro | |
| NM_006206.5:c.1432T>C | NP_006197.1:p.Ser478Pro | |
| XM_006714041.3:c.1507T>C | XP_006714104.1:p.Ser503Pro | |
| XM_017008281.1:c.1471T>C | XP_016863770.1:p.Ser491Pro | |
| NM_006206.6:c.1432T>C MANE Select | NP_006197.1:p.Ser478Pro | |
| NM_001347827.2:c.1432T>C | NP_001334756.1:p.Ser478Pro | |
| NM_001347828.2:c.1507T>C | NP_001334757.1:p.Ser503Pro | |
| NM_001347829.2:c.1432T>C | NP_001334758.1:p.Ser478Pro | |
| NM_001347830.2:c.1471T>C | NP_001334759.1:p.Ser491Pro |