Revel Score:
ENST00000399503 (MANE Select)
0.233
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005789 (EAS)
Genomes Max Group AF
0.00015688 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875191G>T , CM000667.2:g.56875191G>T | GRCh38 |
| NC_000005.9:g.56171018G>T , CM000667.1:g.56171018G>T | GRCh37 |
| NC_000005.8:g.56206775G>T | NCBI36 |
| NG_031884.1:g.65119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1846G>T MANE Select | ENSP00000382423.3:p.Gly616Trp | |
| ENST00000399503.3:c.1846G>T | ENSP00000382423.3:p.Gly616Trp | |
| NM_005921.1:c.1846G>T | NP_005912.1:p.Gly616Trp | |
| XM_005248519.3:c.1468G>T | XP_005248576.2:p.Gly490Trp | |
| XM_011543406.1:c.1591G>T | XP_011541708.1:p.Gly531Trp | |
| XM_011543407.1:c.1686+2186G>T | XP_011541709.1:n.1686+2186G>T | |
| XM_011543408.1:c.1846G>T | XP_011541710.1:p.Gly616Trp | |
| XM_017009484.1:c.1435G>T | XP_016864973.1:p.Gly479Trp | |
| XM_017009485.1:c.1357G>T | XP_016864974.1:p.Gly453Trp | |
| XR_001742068.2:n.1877G>T | ||
| NM_005921.2:c.1846G>T MANE Select | NP_005912.1:p.Gly616Trp |