Revel Score:
ENST00000345530 (MANE Plus Clinical)
0.227
ENST00000281405 (MANE Select)
0.227
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00061588 (NFE)
Genomes Max Group AF
0.00114202 (NFE)
Exomes Max Group AF
0.00057175 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19914120C>G , CM000664.2:g.19914120C>G | GRCh38 |
| NC_000002.11:g.20113881C>G , CM000664.1:g.20113881C>G | GRCh37 |
| NC_000002.10:g.19977362C>G | NCBI36 |
| NG_021212.1:g.81004G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3279G>C MANE Select | ENSP00000281405.5:p.Gln1093His | |
| ENST00000345530.8:c.3312G>C MANE Plus Clinical | ENSP00000314444.5:p.Gln1104His | |
| ENST00000281405.8:c.3279G>C | ENSP00000281405.4:p.Gln1093His | |
| ENST00000345530.7:c.3312G>C | ENSP00000314444.5:p.Gln1104His | |
| ENST00000414212.5:c.*594G>C | ENSP00000390802.1:n.*594G>C | |
| ENST00000445063.5:c.2322-412G>C | ||
| NM_001006657.1:c.3312G>C | NP_001006658.1:p.Gln1104His | |
| NM_020779.3:c.3279G>C | NP_065830.2:p.Gln1093His | |
| XM_011533007.1:c.2007G>C | XP_011531309.1:p.Gln669His | |
| XM_011533007.2:c.2007G>C | XP_011531309.1:p.Gln669His | |
| XR_426989.3:n.3212G>C | ||
| NM_001006657.2:c.3312G>C MANE Plus Clinical | NP_001006658.1:p.Gln1104His | |
| NM_020779.4:c.3279G>C MANE Select | NP_065830.2:p.Gln1093His |