Revel Score:
ENST00000263036
0.738
ENST00000378764
0.738
ENST00000378757
0.738
ENST00000378752
0.738
ENST00000378748
0.738
ENST00000378747 (MANE Select)
0.738
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032319 (MID)
Genomes Max Group AF
0.00009046 (NFE)
Exomes Max Group AF
0.00034129 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13124053A>T , CM000672.2:g.13124053A>T | GRCh38 |
| NC_000010.10:g.13166053A>T , CM000672.1:g.13166053A>T | GRCh37 |
| NC_000010.9:g.13206059A>T | NCBI36 |
| NG_012876.1:g.28972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.941A>T MANE Select | ENSP00000368021.3:p.Gln314Leu | |
| ENST00000263036.9:c.941A>T | ENSP00000263036.3:p.Gln314Leu | |
| ENST00000378747.7:c.941A>T | ENSP00000368021.3:p.Gln314Leu | |
| ENST00000378748.7:c.941A>T | ENSP00000368022.3:p.Gln314Leu | |
| ENST00000378752.7:c.923A>T | ENSP00000368027.3:p.Gln308Leu | |
| ENST00000378757.6:c.941A>T | ENSP00000368032.2:p.Gln314Leu | |
| ENST00000378764.6:c.923A>T | ENSP00000368040.1:p.Gln308Leu | |
| NM_001008211.1:c.941A>T | NP_001008212.1:p.Gln314Leu | |
| NM_001008212.1:c.941A>T | NP_001008213.1:p.Gln314Leu | |
| NM_001008213.1:c.941A>T | NP_001008214.1:p.Gln314Leu | |
| NM_021980.4:c.941A>T | NP_068815.2:p.Gln314Leu | |
| XM_005252336.2:c.923A>T | XP_005252393.2:p.Gln308Leu | |
| XM_005252337.3:c.923A>T | XP_005252394.2:p.Gln308Leu | |
| XM_005252338.2:c.770A>T | XP_005252395.2:p.Gln257Leu | |
| NM_001008212.2:c.941A>T MANE Select | NP_001008213.1:p.Gln314Leu |