CIViC:
COSMIC:
COSM148097 (not active)
Revel Score:
ENST00000320623 (MANE Select)
0.366
ENST00000379047
0.366
ENST00000379046
0.366
ENST00000439109
0.366
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41365863 (EAS)
Genomes Max Group AF
0.43003515 (EAS)
Exomes Max Group AF
0.40991358 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69711242G>A , CM000678.2:g.69711242G>A | GRCh38 |
| NC_000016.9:g.69745145G>A , CM000678.1:g.69745145G>A | GRCh37 |
| NC_000016.8:g.68302646G>A | NCBI36 |
| NG_011504.1:g.20389C>T | |
| NG_011504.2:g.20389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320623.10:c.559C>T MANE Select | ENSP00000319788.5:p.Pro187Ser | |
| ENST00000320623.9:c.559C>T | ENSP00000319788.5:p.Pro187Ser | |
| ENST00000379046.6:c.445C>T | ENSP00000368334.2:p.Pro149Ser | |
| ENST00000379047.7:c.457C>T | ENSP00000368335.3:p.Pro153Ser | |
| ENST00000439109.6:c.343C>T | ENSP00000398330.2:p.Pro115Ser | |
| ENST00000561500.5:c.445C>T | ENSP00000456282.1:p.Pro149Ser | |
| ENST00000564043.1:c.496C>T | ENSP00000455020.1:p.Pro166Ser | |
| NM_000903.2:c.559C>T | NP_000894.1:p.Pro187Ser | |
| NM_001025433.1:c.457C>T | NP_001020604.1:p.Pro153Ser | |
| NM_001025434.1:c.445C>T | NP_001020605.1:p.Pro149Ser | |
| NM_001286137.1:c.343C>T | NP_001273066.1:p.Pro115Ser | |
| NM_000903.3:c.559C>T MANE Select | NP_000894.1:p.Pro187Ser | |
| NM_001025433.2:c.457C>T | NP_001020604.1:p.Pro153Ser | |
| NM_001025434.2:c.445C>T | NP_001020605.1:p.Pro149Ser | |
| NM_001286137.2:c.343C>T | NP_001273066.1:p.Pro115Ser |