COSMIC:
COSM4988743 (not active)
COSM4988744 (not active)
COSM4988745 (not active)
Revel Score:
ENST00000399759
0.120
ENST00000399756
0.120
ENST00000425167
0.120
ENST00000310522
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24102187 (EAS)
Genomes Max Group AF
0.22274536 (EAS)
Exomes Max Group AF
0.24221922 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3592080G>A , CM000679.2:g.3592080G>A | GRCh38 |
| NC_000017.10:g.3495374G>A , CM000679.1:g.3495374G>A | GRCh37 |
| NC_000017.9:g.3442123G>A | NCBI36 |
| NG_029716.1:g.22332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572705.2:c.271C>T MANE Select | ENSP00000459962.1:p.Pro91Ser | |
| ENST00000650505.1:c.271C>T | ENSP00000497337.1:p.Pro91Ser | |
| ENST00000310522.5:c.271C>T | ENSP00000311692.5:p.Pro91Ser | |
| ENST00000399756.8:c.271C>T | ENSP00000382659.4:p.Pro91Ser | |
| ENST00000399759.7:c.271C>T | ENSP00000382661.3:p.Pro91Ser | |
| ENST00000425167.6:c.271C>T | ENSP00000409627.2:p.Pro91Ser | |
| ENST00000571088.5:c.271C>T | ENSP00000461007.1:p.Pro91Ser | |
| ENST00000572705.1:c.271C>T | ENSP00000459962.1:p.Pro91Ser | |
| ENST00000572919.1:c.*1555C>T | ENSP00000461416.1:n.*1555C>T | |
| ENST00000574085.5:n.288C>T | ||
| ENST00000576351.5:c.271C>T | ENSP00000459042.1:p.Pro91Ser | |
| NM_018727.5:c.271C>T | NP_061197.4:p.Pro91Ser | |
| NM_080704.3:c.271C>T | NP_542435.2:p.Pro91Ser | |
| NM_080705.3:c.271C>T | NP_542436.2:p.Pro91Ser | |
| NM_080706.3:c.271C>T | NP_542437.2:p.Pro91Ser | |
| NM_080704.4:c.271C>T MANE Select | NP_542435.2:p.Pro91Ser | |
| NM_080705.4:c.271C>T | NP_542436.2:p.Pro91Ser |