COSMIC:
COSM6283320 (not active)
Revel Score:
ENST00000264033 (MANE Select)
0.271
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00728533 (AFR)
Genomes Max Group AF
0.00730275 (AFR)
Exomes Max Group AF
0.00679226 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119298451C>T , CM000673.2:g.119298451C>T | GRCh38 |
| NC_000011.9:g.119169161C>T , CM000673.1:g.119169161C>T | GRCh37 |
| NC_000011.8:g.118674371C>T | NCBI36 |
| NG_016808.1:g.97172C>T , LRG_608:g.97172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1797C>T | ENSP00000515005.1:n.*1797C>T | |
| ENST00000264033.6:c.2345C>T MANE Select | ENSP00000264033.3:p.Pro782Leu | |
| ENST00000637974.1:c.2339C>T | ENSP00000490763.1:p.Pro780Leu | |
| ENST00000264033.5:c.2345C>T | ENSP00000264033.3:p.Pro782Leu | |
| ENST00000634301.1:c.80C>T | ENSP00000489556.1:p.Pro27Leu | |
| ENST00000634586.1:c.2345C>T | ENSP00000489218.1:p.Pro782Leu | |
| ENST00000634840.1:c.2213C>T | ENSP00000489324.1:p.Pro738Leu | |
| NM_005188.3:c.2345C>T , LRG_608t1:c.2345C>T | NP_005179.2:p.Pro782Leu | |
| NM_005188.4:c.2345C>T MANE Select | NP_005179.2:p.Pro782Leu |