Revel Score:
ENST00000283871 (MANE Select)
0.940
ENST00000476082
0.940
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010211 (NFE)
Genomes Max Group AF
0.00023037 (NFE)
Exomes Max Group AF
0.0000894 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120647041C>T , CM000665.2:g.120647041C>T | GRCh38 |
| NC_000003.11:g.120365888C>T , CM000665.1:g.120365888C>T | GRCh37 |
| NC_000003.10:g.121848578C>T | NCBI36 |
| NG_011957.1:g.40441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.481G>A MANE Select | ENSP00000283871.5:p.Gly161Arg | |
| ENST00000283871.9:c.481G>A | ENSP00000283871.5:p.Gly161Arg | |
| ENST00000475447.2:c.12G>A | ||
| ENST00000476082.2:c.358G>A | ENSP00000419560.2:p.Gly120Arg | |
| ENST00000492108.5:c.112G>A | ENSP00000419838.1:p.Gly38Arg | |
| NM_000187.3:c.481G>A | NP_000178.2:p.Gly161Arg | |
| XM_005247412.1:c.481G>A | XP_005247469.1:p.Gly161Arg | |
| XM_005247413.1:c.481G>A | XP_005247470.1:p.Gly161Arg | |
| XM_005247414.3:c.481G>A | XP_005247471.1:p.Gly161Arg | |
| XM_011512746.1:c.481G>A | XP_011511048.1:p.Gly161Arg | |
| XM_005247412.2:c.481G>A | XP_005247469.1:p.Gly161Arg | |
| XM_005247413.2:c.481G>A | XP_005247470.1:p.Gly161Arg | |
| XM_005247414.5:c.481G>A | XP_005247471.1:p.Gly161Arg | |
| XM_011512746.2:c.481G>A | XP_011511048.1:p.Gly161Arg | |
| XM_017006277.2:c.58G>A | XP_016861766.1:p.Gly20Arg | |
| NM_000187.4:c.481G>A MANE Select | NP_000178.2:p.Gly161Arg |