Revel Score:
ENST00000283871 (MANE Select)
0.956
ENST00000494453
0.694
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120644419C>T , CM000665.2:g.120644419C>T | GRCh38 |
| NC_000003.11:g.120363266C>T , CM000665.1:g.120363266C>T | GRCh37 |
| NC_000003.10:g.121845956C>T | NCBI36 |
| NG_011957.1:g.43063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.674G>A MANE Select | ENSP00000283871.5:p.Arg225His | |
| ENST00000283871.9:c.674G>A | ENSP00000283871.5:p.Arg225His | |
| ENST00000475447.2:c.202+179G>A | ||
| ENST00000492108.5:c.180+2554G>A | ENSP00000419838.1:n.180+2554G>A | |
| ENST00000494453.1:c.94G>A | ||
| NM_000187.3:c.674G>A | NP_000178.2:p.Arg225His | |
| XM_005247412.1:c.549+2554G>A | XP_005247469.1:n.549+2554G>A | |
| XM_005247413.1:c.674G>A | XP_005247470.1:p.Arg225His | |
| XM_011512746.1:c.674G>A | XP_011511048.1:p.Arg225His | |
| XM_005247412.2:c.549+2554G>A | XP_005247469.1:n.549+2554G>A | |
| XM_005247413.2:c.674G>A | XP_005247470.1:p.Arg225His | |
| XM_005247414.5:c.*148G>A | XP_005247471.1:n.*148G>A | |
| XM_011512746.2:c.674G>A | XP_011511048.1:p.Arg225His | |
| XM_017006277.2:c.251G>A | XP_016861766.1:p.Arg84His | |
| NM_000187.4:c.674G>A MANE Select | NP_000178.2:p.Arg225His |