Revel Score:
ENST00000374708
0.288
ENST00000341947 (MANE Select)
0.288
ENST00000357486
0.288
ENST00000374714
0.288
ENST00000374713
0.288
ENST00000395197
0.288
ENST00000374712
0.288
ENST00000361917
0.288
ENST00000457788
0.288
ENST00000395194
0.288
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039296 (EAS)
Genomes Max Group AF
0.00026337 (EAS)
Exomes Max Group AF
0.00035904 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33192236T>C , CM000668.2:g.33192236T>C | GRCh38 |
| NC_000006.11:g.33160013T>C , CM000668.1:g.33160013T>C | GRCh37 |
| NC_000006.10:g.33267991T>C | NCBI36 |
| NG_011589.1:g.5233A>G | |
| NG_023374.1:g.13420A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.5A>G MANE Select | ENSP00000339915.2:p.Glu2Gly | |
| ENST00000341947.6:c.5A>G | ENSP00000339915.2:p.Glu2Gly | |
| ENST00000361917.5:c.5A>G | ENSP00000355123.1:p.Glu2Gly | |
| ENST00000374708.8:c.5A>G | ENSP00000363840.4:p.Glu2Gly | |
| ENST00000395194.1:c.5A>G | ENSP00000378620.1:p.Glu2Gly | |
| ENST00000457788.5:c.5A>G | ENSP00000405520.1:p.Glu2Gly | |
| NM_001163771.1:c.5A>G | NP_001157243.1:p.Glu2Gly | |
| NM_080679.2:c.5A>G | NP_542410.2:p.Glu2Gly | |
| NM_080680.2:c.5A>G | NP_542411.2:p.Glu2Gly | |
| NM_080681.2:c.5A>G | NP_542412.2:p.Glu2Gly | |
| XM_011514298.1:c.-765+789A>G | XP_011512600.1:n.-765+789A>G | |
| XM_017010250.1:c.5A>G | XP_016865739.1:p.Glu2Gly | |
| NM_001163771.2:c.5A>G | NP_001157243.1:p.Glu2Gly | |
| NM_080680.3:c.5A>G MANE Select | NP_542411.2:p.Glu2Gly | |
| NM_080681.3:c.5A>G | NP_542412.2:p.Glu2Gly | |
| NM_080679.3:c.5A>G | NP_542410.2:p.Glu2Gly |