Revel Score:
ENST00000268638 (MANE Select)
0.397
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020784 (AMR)
Genomes Max Group AF
0.00040286 (AMR)
Exomes Max Group AF
0.00008918 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85918486C>T , CM000678.2:g.85918486C>T | GRCh38 |
| NC_000016.9:g.85952092C>T , CM000678.1:g.85952092C>T | GRCh37 |
| NC_000016.8:g.84509593C>T | NCBI36 |
| NG_029333.1:g.24319C>T , LRG_294:g.24319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564803.6:c.671C>T | ENSP00000456992.2:p.Pro224Leu | |
| ENST00000566369.2:c.448-1623C>T | ENSP00000455048.2:n.448-1623C>T | |
| ENST00000569607.2:c.59C>T | ENSP00000456395.2:p.Pro20Leu | |
| ENST00000696884.1:c.*103C>T | ENSP00000512951.1:n.*103C>T | |
| ENST00000696885.1:c.*1149C>T | ENSP00000512952.1:n.*1149C>T | |
| ENST00000696886.1:n.2804C>T | ||
| ENST00000696887.1:c.671C>T | ENSP00000512953.1:p.Pro224Leu | |
| ENST00000696890.1:n.618C>T | ||
| ENST00000268638.10:c.671C>T MANE Select | ENSP00000268638.4:p.Pro224Leu | |
| ENST00000268638.9:c.671C>T | ENSP00000268638.4:p.Pro224Leu | |
| ENST00000562492.5:c.59C>T | ENSP00000455452.1:p.Pro20Leu | |
| ENST00000564803.5:c.671C>T | ENSP00000456992.1:p.Pro224Leu | |
| ENST00000566369.1:c.276-1623C>T | ||
| ENST00000569145.5:c.40C>T | ENSP00000455760.1:p.Pro14Ser | |
| ENST00000569607.1:c.59C>T | ENSP00000456395.1:p.Pro20Leu | |
| NM_002163.2:c.671C>T , LRG_294t1:c.671C>T | NP_002154.1:p.Pro224Leu | |
| XM_011523064.1:c.59C>T | XP_011521366.1:p.Pro20Leu | |
| NM_001363907.1:c.701C>T | NP_001350836.1:p.Pro234Leu | |
| NM_001363908.1:c.59C>T | NP_001350837.1:p.Pro20Leu | |
| NM_002163.3:c.671C>T | NP_002154.1:p.Pro224Leu | |
| NM_002163.4:c.671C>T MANE Select | NP_002154.1:p.Pro224Leu |