Revel Score:
ENST00000267622 (MANE Select)
0.133
ENST00000542257
0.133
ENST00000554357
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00290975 (NFE)
Genomes Max Group AF
0.00263406 (NFE)
Exomes Max Group AF
0.00290796 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91993832C>G , CM000676.2:g.91993832C>G | GRCh38 |
| NC_000014.8:g.92460176C>G , CM000676.1:g.92460176C>G | GRCh37 |
| NC_000014.7:g.91529929C>G | NCBI36 |
| NG_016970.1:g.51228G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5137G>C MANE Select | ENSP00000267622.4:p.Glu1713Gln | |
| ENST00000554357.5:c.4283G>C | ||
| ENST00000557017.1:c.385G>C | ENSP00000451607.1:p.Glu129Gln | |
| NM_004239.3:c.5137G>C | NP_004230.2:p.Glu1713Gln | |
| XM_005268214.2:c.3811G>C | XP_005268271.1:p.Glu1271Gln | |
| XM_005268215.2:c.2107G>C | XP_005268272.1:p.Glu703Gln | |
| XM_006720321.2:c.5134G>C | XP_006720384.1:p.Glu1712Gln | |
| XR_943560.1:n.5592G>C | ||
| NM_001321851.1:c.5134G>C | NP_001308780.1:p.Glu1712Gln | |
| NM_004239.4:c.5137G>C MANE Select | NP_004230.2:p.Glu1713Gln | |
| XM_017021787.2:c.4432G>C | XP_016877276.1:p.Glu1478Gln | |
| XM_017021788.2:c.3811G>C | XP_016877277.1:p.Glu1271Gln | |
| XR_001750598.2:n.5422G>C | ||
| XR_943560.2:n.5586G>C |