ClinVar Variation:
COSMIC:
COSM3759026
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14476671 (NFE)
Genomes Max Group AF
0.08410881 (NFE)
Exomes Max Group AF
0.14582175 (NFE)
Revel Score:
ENST00000357068 (MANE Select)
0.145
ENST00000313755
0.145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18918451C>T , CM000684.2:g.18918451C>T | GRCh38 |
| NC_000022.10:g.18905964C>T , CM000684.1:g.18905964C>T | GRCh37 |
| NC_000022.9:g.17285964C>T | NCBI36 |
| NG_008226.2:g.23103G>A | |
| NG_008226.3:g.23103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1292G>A MANE Select | ENSP00000349577.6:p.Arg431His | |
| ENST00000638240.1:c.513+7423C>T | ENSP00000492446.1:n.513+7423C>T | |
| ENST00000313755.9:n.2057G>A | ||
| ENST00000334029.6:c.968G>A | ENSP00000334726.2:p.Arg323His | |
| ENST00000357068.10:c.1292G>A | ENSP00000349577.6:p.Arg431His | |
| ENST00000420436.5:c.968G>A | ENSP00000410805.1:p.Arg323His | |
| ENST00000429300.5:n.1663G>A | ||
| ENST00000482858.5:n.3772G>A | ||
| ENST00000491604.5:n.2201G>A | ||
| ENST00000609229.1:n.2145G>A | ||
| ENST00000610940.4:c.1292G>A | ENSP00000480347.1:p.Arg431His | |
| NM_001195226.1:c.968G>A | NP_001182155.1:p.Arg323His | |
| NM_016335.4:c.1292G>A | NP_057419.4:p.Arg431His | |
| XM_011530278.1:c.719G>A | XP_011528580.1:p.Arg240His | |
| XM_011530279.1:c.512G>A | XP_011528581.1:p.Arg171His | |
| XR_937876.1:n.1359G>A | ||
| NM_001195226.2:c.968G>A | NP_001182155.2:p.Arg323His | |
| NM_016335.5:c.1292G>A | NP_057419.5:p.Arg431His | |
| NM_016335.6:c.1292G>A MANE Select | NP_057419.5:p.Arg431His |