Revel Score:
ENST00000367714 (MANE Select)
0.222
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000013 (NFE)
Exomes Max Group AF
0.00000138 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173535888T>C , CM000663.2:g.173535888T>C | GRCh38 |
| NC_000001.10:g.173505027T>C , CM000663.1:g.173505027T>C | GRCh37 |
| NC_000001.9:g.171771650T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367714.4:c.1717A>G MANE Select | ENSP00000356687.3:p.Lys573Glu | |
| ENST00000648789.1:n.579+1054A>G | ||
| ENST00000367714.3:c.1717A>G | ENSP00000356687.3:p.Lys573Glu | |
| ENST00000466087.1:n.1051A>G | ||
| NM_178527.3:c.1717A>G | NP_848622.2:p.Lys573Glu | |
| XM_011509422.1:c.1717A>G | XP_011507724.1:p.Lys573Glu | |
| XM_011509423.1:c.1717A>G | XP_011507725.1:p.Lys573Glu | |
| XM_011509424.1:c.1717A>G | XP_011507726.1:p.Lys573Glu | |
| XM_011509425.1:c.1717A>G | XP_011507727.1:p.Lys573Glu | |
| XM_011509426.1:c.1717A>G | XP_011507728.1:p.Lys573Glu | |
| XM_011509427.1:c.1655+1054A>G | XP_011507729.1:n.1655+1054A>G | |
| XM_011509428.1:c.1591A>G | XP_011507730.1:p.Lys531Glu | |
| XM_011509429.1:c.1591A>G | XP_011507731.1:p.Lys531Glu | |
| XM_011509430.1:c.1591A>G | XP_011507732.1:p.Lys531Glu | |
| XM_011509431.1:c.1450A>G | XP_011507733.1:p.Lys484Glu | |
| XM_011509432.1:c.1411A>G | XP_011507734.1:p.Lys471Glu | |
| XM_011509433.1:c.1411A>G | XP_011507735.1:p.Lys471Glu | |
| XM_011509434.1:c.1558-5834A>G | XP_011507736.1:n.1558-5834A>G | |
| XM_011509435.1:c.1216-5834A>G | XP_011507737.1:n.1216-5834A>G | |
| XM_011509436.1:c.637A>G | XP_011507738.1:p.Lys213Glu | |
| XM_011509437.1:c.391A>G | XP_011507739.1:p.Lys131Glu | |
| XM_011509426.2:c.1717A>G | XP_011507728.1:p.Lys573Glu | |
| XM_017001065.2:c.1717A>G | XP_016856554.1:p.Lys573Glu | |
| XM_017001066.1:c.1717A>G | XP_016856555.1:p.Lys573Glu | |
| XM_017001068.2:c.1591A>G | XP_016856557.1:p.Lys531Glu | |
| XM_017001069.2:c.1591A>G | XP_016856558.1:p.Lys531Glu | |
| XM_017001070.1:c.1591A>G | XP_016856559.1:p.Lys531Glu | |
| XM_017001071.1:c.1579A>G | XP_016856560.1:p.Lys527Glu | |
| XM_017001072.2:c.1450A>G | XP_016856561.1:p.Lys484Glu | |
| XM_017001073.1:c.1411A>G | XP_016856562.1:p.Lys471Glu | |
| XM_017001074.1:c.1411A>G | XP_016856563.1:p.Lys471Glu | |
| XM_017001075.1:c.637A>G | XP_016856564.1:p.Lys213Glu | |
| XM_017001076.1:c.391A>G | XP_016856565.1:p.Lys131Glu | |
| NM_178527.4:c.1717A>G MANE Select | NP_848622.2:p.Lys573Glu |