Revel Score:
ENST00000283871 (MANE Select)
0.929
ENST00000475447
0.488
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000145 (SAS)
Genomes Max Group AF
0.00009569 (AFR)
Exomes Max Group AF
0.00015299 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120641660C>T , CM000665.2:g.120641660C>T | GRCh38 |
| NC_000003.11:g.120360507C>T , CM000665.1:g.120360507C>T | GRCh37 |
| NC_000003.10:g.121843197C>T | NCBI36 |
| NG_011957.1:g.45822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.808G>A MANE Select | ENSP00000283871.5:p.Gly270Arg | |
| ENST00000283871.9:c.808G>A | ENSP00000283871.5:p.Gly270Arg | |
| ENST00000470321.1:n.148G>A | ||
| ENST00000475447.2:c.236G>A | ||
| ENST00000492108.5:c.214G>A | ENSP00000419838.1:p.Gly72Arg | |
| ENST00000494453.1:c.228G>A | ||
| NM_000187.3:c.808G>A | NP_000178.2:p.Gly270Arg | |
| XM_005247412.1:c.583G>A | XP_005247469.1:p.Gly195Arg | |
| XM_005247413.1:c.808G>A | XP_005247470.1:p.Gly270Arg | |
| XM_011512746.1:c.808G>A | XP_011511048.1:p.Gly270Arg | |
| XM_005247412.2:c.583G>A | XP_005247469.1:p.Gly195Arg | |
| XM_005247413.2:c.808G>A | XP_005247470.1:p.Gly270Arg | |
| XM_011512746.2:c.808G>A | XP_011511048.1:p.Gly270Arg | |
| XM_017006277.2:c.385G>A | XP_016861766.1:p.Gly129Arg | |
| NM_000187.4:c.808G>A MANE Select | NP_000178.2:p.Gly270Arg |