Revel Score:
ENST00000254654 (MANE Select)
0.075
ENST00000457149
0.075
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003503 (NFE)
Exomes Max Group AF
0.00003631 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238194858T>C , CM000664.2:g.238194858T>C | GRCh38 |
| NC_000002.11:g.239103499T>C , CM000664.1:g.239103499T>C | GRCh37 |
| NC_000002.10:g.238768238T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254654.8:c.68A>G MANE Select | ENSP00000254654.3:p.Gln23Arg | |
| ENST00000254654.7:c.68A>G | ENSP00000254654.3:p.Gln23Arg | |
| ENST00000457149.1:c.68A>G | ENSP00000395301.1:p.Gln23Arg | |
| ENST00000463129.5:n.153A>G | ||
| ENST00000467133.5:n.210A>G | ||
| ENST00000490837.1:n.210A>G | ||
| ENST00000498727.5:n.195A>G | ||
| ENST00000612675.4:c.68A>G | ENSP00000477533.1:p.Gln23Arg | |
| ENST00000622223.4:c.68A>G | ENSP00000477542.1:p.Gln23Arg | |
| NM_030768.2:c.68A>G | NP_110395.1:p.Gln23Arg | |
| XM_005246106.1:c.-306A>G | XP_005246163.1:n.-306A>G | |
| XM_006712784.1:c.-160A>G | XP_006712847.1:n.-160A>G | |
| XR_923033.1:n.217A>G | ||
| XM_011511946.2:c.-192A>G | XP_011510248.1:n.-192A>G | |
| XM_017005056.2:c.-283A>G | XP_016860545.1:n.-283A>G | |
| XM_017005057.1:c.-654A>G | XP_016860546.1:n.-654A>G | |
| XM_017005058.1:c.-215A>G | XP_016860547.1:n.-215A>G | |
| XM_024453162.1:c.-2259A>G | XP_024308930.1:n.-2259A>G | |
| NM_030768.3:c.68A>G MANE Select | NP_110395.1:p.Gln23Arg |