gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00072014 (NFE)
Genomes Max Group AF
0.00060462 (AMR)
Exomes Max Group AF
0.00072098 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155238631G>A , CM000663.2:g.155238631G>A | GRCh38 |
| NC_000001.10:g.155208422G>A , CM000663.1:g.155208422G>A | GRCh37 |
| NC_000001.9:g.153475046G>A | NCBI36 |
| NG_009783.1:g.11067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.474C>T MANE Select | ENSP00000357357.3:p.Ile158= | |
| ENST00000327247.9:c.474C>T | ENSP00000314508.5:p.Ile158= | |
| ENST00000368373.7:c.474C>T | ENSP00000357357.3:p.Ile158= | |
| ENST00000427500.7:c.327C>T | ENSP00000402577.2:p.Ile109= | |
| ENST00000428024.3:c.213C>T | ENSP00000397986.2:p.Ile71= | |
| ENST00000460156.1:n.261C>T | ||
| ENST00000473570.5:n.795C>T | ||
| ENST00000484489.5:n.339+1342C>T | ||
| ENST00000491081.5:n.79C>T | ||
| ENST00000493842.5:n.812C>T | ||
| ENST00000497670.5:n.97C>T | ||
| NM_000157.3:c.474C>T | NP_000148.2:p.Ile158= | |
| NM_001005741.2:c.474C>T | NP_001005741.1:p.Ile158= | |
| NM_001005742.2:c.474C>T | NP_001005742.1:p.Ile158= | |
| NM_001171811.1:c.213C>T | NP_001165282.1:p.Ile71= | |
| NM_001171812.1:c.327C>T | NP_001165283.1:p.Ile109= | |
| XM_006711270.1:c.474C>T | XP_006711333.1:p.Ile158= | |
| XM_011509407.1:c.474C>T | XP_011507709.1:p.Ile158= | |
| NM_000157.4:c.474C>T MANE Select | NP_000148.2:p.Ile158= | |
| NM_001005741.3:c.474C>T | NP_001005741.1:p.Ile158= | |
| NM_001005742.3:c.474C>T | NP_001005742.1:p.Ile158= | |
| NM_001171811.2:c.213C>T | NP_001165282.1:p.Ile71= | |
| NM_001171812.2:c.327C>T | NP_001165283.1:p.Ile109= |