COSMIC:
COSM6335529 (not active)
Revel Score:
ENST00000330377 (MANE Select)
0.235
ENST00000438703
0.235
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00096977 (NFE)
Genomes Max Group AF
0.00152222 (NFE)
Exomes Max Group AF
0.00092291 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573483G>A , CM000684.2:g.23573483G>A | GRCh38 |
| NC_000022.10:g.23915670G>A , CM000684.1:g.23915670G>A | GRCh37 |
| NC_000022.9:g.22245670G>A | NCBI36 |
| NG_009791.1:g.11826C>T , LRG_69:g.11826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.425C>T MANE Select | ENSP00000329312.2:p.Pro142Leu | |
| ENST00000249053.3:c.*54C>T | ENSP00000249053.3:n.*54C>T | |
| ENST00000330377.2:c.425C>T | ENSP00000329312.2:p.Pro142Leu | |
| ENST00000438703.1:c.428C>T | ENSP00000403391.1:p.Pro143Leu | |
| NM_020070.3:c.425C>T | NP_064455.1:p.Pro142Leu | |
| NM_152855.2:c.*54C>T | NP_690594.1:n.*54C>T | |
| XM_011530169.1:c.428C>T | XP_011528471.1:p.Pro143Leu | |
| XM_011530169.2:c.428C>T | XP_011528471.1:p.Pro143Leu | |
| NM_020070.4:c.425C>T MANE Select | NP_064455.1:p.Pro142Leu | |
| NM_001369906.1:c.428C>T | NP_001356835.1:p.Pro143Leu | |
| NM_152855.3:c.*54C>T | NP_690594.1:n.*54C>T |