Revel Score:
ENST00000400590 (MANE Select)
0.013
ENST00000320220
0.013
ENST00000382466
0.013
ENST00000415724
0.013
ENST00000422251
0.013
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002594 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00000814 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21459158G>C , CM000675.2:g.21459158G>C | GRCh38 |
| NC_000013.10:g.22033297G>C , CM000675.1:g.22033297G>C | GRCh37 |
| NC_000013.9:g.20931297G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400590.8:c.14C>G MANE Select | ENSP00000383433.3:p.Thr5Arg | |
| ENST00000320220.13:c.14C>G | ENSP00000313583.9:p.Thr5Arg | |
| ENST00000382466.7:c.14C>G | ENSP00000371905.3:p.Thr5Arg | |
| ENST00000400590.7:c.14C>G | ENSP00000383433.3:p.Thr5Arg | |
| ENST00000415724.2:c.14C>G | ENSP00000401232.1:p.Thr5Arg | |
| ENST00000542645.5:c.-149C>G | ENSP00000443236.1:n.-149C>G | |
| NM_001286638.1:c.-149C>G | NP_001273567.1:n.-149C>G | |
| NM_153251.3:c.14C>G | NP_694983.2:p.Thr5Arg | |
| NR_104486.1:n.213C>G | ||
| NR_104487.1:n.213C>G | ||
| XM_006719795.1:c.14C>G | XP_006719858.1:p.Thr5Arg | |
| XM_006719796.1:c.14C>G | XP_006719859.1:p.Thr5Arg | |
| XM_006719797.1:c.14C>G | XP_006719860.1:p.Thr5Arg | |
| XR_429215.1:n.152C>G | ||
| XR_941546.1:n.152C>G | ||
| NM_001330059.1:c.14C>G | NP_001316988.1:p.Thr5Arg | |
| XM_017020527.1:c.-163C>G | XP_016876016.1:n.-163C>G | |
| XR_001749530.1:n.152C>G | ||
| XR_001749531.1:n.152C>G | ||
| NM_001330059.2:c.14C>G MANE Select | NP_001316988.1:p.Thr5Arg | |
| NR_104486.2:n.146C>G | ||
| NR_104487.2:n.146C>G | ||
| NM_001286638.2:c.-149C>G | NP_001273567.1:n.-149C>G | |
| NM_153251.4:c.14C>G | NP_694983.2:p.Thr5Arg |