Revel Score:
ENST00000324559 (MANE Select)
0.053
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250324A>C , CM000673.2:g.22250324A>C | GRCh38 |
| NC_000011.9:g.22271870A>C , CM000673.1:g.22271870A>C | GRCh37 |
| NC_000011.8:g.22228446A>C | NCBI36 |
| NG_015844.1:g.62149A>C , LRG_868:g.62149A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.286A>C | ||
| ENST00000682266.1:c.516A>C | ENSP00000507766.1:p.Leu172Phe | |
| ENST00000682341.1:c.924A>C | ENSP00000508251.1:p.Leu308Phe | |
| ENST00000682530.1:c.*898A>C | ENSP00000506805.1:n.*898A>C | |
| ENST00000683197.1:c.924A>C | ENSP00000507641.1:p.Leu308Phe | |
| ENST00000683411.1:c.516A>C | ENSP00000508397.1:p.Leu172Phe | |
| ENST00000683437.1:c.516A>C | ENSP00000508408.1:p.Leu172Phe | |
| ENST00000683613.1:n.1960A>C | ||
| ENST00000683834.1:n.1166A>C | ||
| ENST00000684663.1:c.921A>C | ENSP00000508009.1:p.Leu307Phe | |
| ENST00000324559.9:c.966A>C MANE Select | ENSP00000315371.9:p.Leu322Phe | |
| ENST00000648804.1:n.1301A>C | ||
| ENST00000324559.8:c.966A>C | ENSP00000315371.8:p.Leu322Phe | |
| NM_001142649.1:c.963A>C | NP_001136121.1:p.Leu321Phe | |
| NM_213599.2:c.966A>C , LRG_868t1:c.966A>C | NP_998764.1:p.Leu322Phe | |
| XM_005252820.2:c.924A>C | XP_005252877.2:p.Leu308Phe | |
| XM_005252821.2:c.921A>C | XP_005252878.2:p.Leu307Phe | |
| XM_005252822.3:c.888A>C | XP_005252879.1:p.Leu296Phe | |
| XM_005252823.3:c.885A>C | XP_005252880.1:p.Leu295Phe | |
| XM_011519949.1:c.873A>C | XP_011518251.1:p.Leu291Phe | |
| XM_005252820.3:c.924A>C | XP_005252877.2:p.Leu308Phe | |
| XM_005252821.3:c.921A>C | XP_005252878.2:p.Leu307Phe | |
| XM_005252822.4:c.888A>C | XP_005252879.1:p.Leu296Phe | |
| XM_011519949.2:c.873A>C | XP_011518251.1:p.Leu291Phe | |
| NM_001142649.2:c.963A>C | NP_001136121.1:p.Leu321Phe | |
| NM_213599.3:c.966A>C MANE Select | NP_998764.1:p.Leu322Phe |