Revel Score:
ENST00000407106
0.970
ENST00000261755
0.970
ENST00000539156
0.970
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004781 (NFE)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00004813 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180172G>A , CM000677.2:g.80180172G>A | GRCh38 |
| NC_000015.9:g.80472514G>A , CM000677.1:g.80472514G>A | GRCh37 |
| NC_000015.8:g.78259569G>A | NCBI36 |
| NG_012833.1:g.32174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1098G>A | ||
| ENST00000561421.6:c.1009G>A MANE Select | ENSP00000453347.2:p.Gly337Ser | |
| ENST00000646551.1:n.2623G>A | ||
| ENST00000261755.9:c.1009G>A | ENSP00000261755.5:p.Gly337Ser | |
| ENST00000407106.5:c.1009G>A | ENSP00000385080.1:p.Gly337Ser | |
| ENST00000539156.5:c.799G>A | ENSP00000454271.1:p.Gly267Ser | |
| ENST00000559217.1:n.226G>A | ||
| ENST00000561353.2:c.107G>A | ||
| ENST00000561421.5:c.1009G>A | ENSP00000453347.1:p.Gly337Ser | |
| NM_000137.2:c.1009G>A | NP_000128.1:p.Gly337Ser | |
| XM_024449872.1:c.1009G>A | XP_024305640.1:p.Gly337Ser | |
| NM_000137.4:c.1009G>A MANE Select | NP_000128.1:p.Gly337Ser | |
| NM_001374377.1:c.1009G>A | NP_001361306.1:p.Gly337Ser | |
| NM_001374380.1:c.1009G>A | NP_001361309.1:p.Gly337Ser |