Revel Score:
ENST00000342773
0.098
ENST00000538735
0.098
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000386 (NFE)
Exomes Max Group AF
0.00000412 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100572510C>T , CM000669.2:g.100572510C>T | GRCh38 |
| NC_000007.13:g.100170133C>T , CM000669.1:g.100170133C>T | GRCh37 |
| NC_000007.12:g.100008069C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622764.3:c.671G>A MANE Select | ENSP00000481773.2:p.Arg224His | |
| ENST00000538735.5:c.377G>A | ENSP00000442339.1:p.Arg126His | |
| ENST00000611464.1:n.475G>A | ||
| ENST00000614631.4:c.377G>A | ENSP00000481351.1:p.Arg126His | |
| ENST00000622764.2:c.671G>A | ENSP00000481773.2:p.Arg224His | |
| NM_001168682.1:c.377G>A | NP_001162153.1:p.Arg126His | |
| XM_005250096.2:c.671G>A | XP_005250153.1:p.Arg224His | |
| XM_006715822.2:c.650G>A | XP_006715885.1:p.Arg217His | |
| NM_001168682.2:c.650G>A | NP_001162153.2:p.Arg217His | |
| NM_001348677.1:c.377G>A | NP_001335606.1:p.Arg126His | |
| NM_001348680.1:c.671G>A | NP_001335609.1:p.Arg224His | |
| NM_001348680.2:c.671G>A MANE Select | NP_001335609.1:p.Arg224His | |
| NM_001168682.3:c.650G>A | NP_001162153.2:p.Arg217His | |
| NM_001348677.2:c.377G>A | NP_001335606.1:p.Arg126His |