Revel Score:
ENST00000282026 (MANE Select)
0.177
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000296 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000197 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49630889T>G , CM000675.2:g.49630889T>G | GRCh38 |
| NC_000013.10:g.50205025T>G , CM000675.1:g.50205025T>G | GRCh37 |
| NC_000013.9:g.49103026T>G | NCBI36 |
| NG_021342.1:g.7591T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282026.2:c.442T>G MANE Select | ENSP00000282026.1:p.Cys148Gly | |
| ENST00000282026.1:c.442T>G | ENSP00000282026.1:p.Cys148Gly | |
| ENST00000490932.1:n.159+790T>G | ||
| NM_138450.5:c.442T>G | NP_612459.1:p.Cys148Gly | |
| XM_005266253.2:c.442T>G | XP_005266310.1:p.Cys148Gly | |
| XM_005266253.3:c.442T>G | XP_005266310.1:p.Cys148Gly | |
| NM_138450.6:c.442T>G MANE Select | NP_612459.1:p.Cys148Gly |