ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00524571 (SAS)
Genomes Max Group AF
0.0044723 (SAS)
Exomes Max Group AF
0.00520374 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402424C>T , CM000679.2:g.77402424C>T | GRCh38 |
| NC_000017.10:g.75398506C>T , CM000679.1:g.75398506C>T | GRCh37 |
| NC_000017.9:g.72910101C>T | NCBI36 |
| NG_011683.1:g.126015C>T | |
| NG_011683.2:g.126015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.388C>T MANE Plus Clinical | ENSP00000329161.8:p.Arg130Trp | |
| ENST00000427177.6:c.442C>T MANE Select | ENSP00000391249.1:p.Arg148Trp | |
| ENST00000588690.6:c.-51C>T | ENSP00000468668.1:n.-51C>T | |
| ENST00000590294.6:n.491C>T | ||
| ENST00000329047.12:c.388C>T | ENSP00000329161.8:p.Arg130Trp | |
| ENST00000423034.6:c.421C>T | ENSP00000405877.1:p.Arg141Trp | |
| ENST00000427177.5:c.442C>T | ENSP00000391249.1:p.Arg148Trp | |
| ENST00000427674.6:c.-51C>T | ENSP00000403194.1:n.-51C>T | |
| ENST00000431235.6:c.-51C>T | ENSP00000406987.2:n.-51C>T | |
| ENST00000449803.6:c.-51C>T | ENSP00000400181.2:n.-51C>T | |
| ENST00000588575.1:c.124C>T | ENSP00000468090.1:p.Arg42Trp | |
| ENST00000588690.5:c.-51C>T | ENSP00000468668.1:n.-51C>T | |
| ENST00000589140.1:c.397C>T | ENSP00000466997.1:p.Arg133Trp | |
| ENST00000590059.5:c.25-132C>T | ENSP00000466164.1:n.25-132C>T | |
| ENST00000590294.5:c.388C>T | ENSP00000465464.1:p.Arg130Trp | |
| ENST00000590576.5:c.*442C>T | ENSP00000465600.1:n.*442C>T | |
| ENST00000590586.1:n.547C>T | ||
| ENST00000590595.1:c.124C>T | ENSP00000465026.1:p.Arg42Trp | |
| ENST00000590825.1:c.-51C>T | ENSP00000468244.1:n.-51C>T | |
| ENST00000591198.5:c.385C>T | ENSP00000468406.1:p.Arg129Trp | |
| ENST00000592098.1:n.472C>T | ||
| ENST00000592420.1:c.-132C>T | ENSP00000467051.1:n.-132C>T | |
| NM_001113491.1:c.442C>T | NP_001106963.1:p.Arg148Trp | |
| NM_001113492.1:c.-51C>T | NP_001106964.1:n.-51C>T | |
| NM_001113493.1:c.421C>T | NP_001106965.1:p.Arg141Trp | |
| NM_001113494.1:c.-51C>T | NP_001106966.1:n.-51C>T | |
| NM_001293695.1:c.385C>T | NP_001280624.1:p.Arg129Trp | |
| NM_006640.4:c.388C>T | NP_006631.2:p.Arg130Trp | |
| XM_006721643.2:c.-51C>T | XP_006721706.1:n.-51C>T | |
| XM_011524204.1:c.535C>T | XP_011522506.1:p.Arg179Trp | |
| XM_011524205.1:c.532C>T | XP_011522507.1:p.Arg178Trp | |
| XM_011524206.1:c.397C>T | XP_011522508.1:p.Arg133Trp | |
| XM_011524207.1:c.-51C>T | XP_011522509.1:n.-51C>T | |
| NM_001113491.2:c.442C>T MANE Select | NP_001106963.1:p.Arg148Trp | |
| NM_001113493.2:c.421C>T | NP_001106965.1:p.Arg141Trp | |
| NM_001293695.2:c.385C>T | NP_001280624.1:p.Arg129Trp | |
| NM_001113492.2:c.-51C>T | NP_001106964.1:n.-51C>T | |
| NM_006640.5:c.388C>T MANE Plus Clinical | NP_006631.2:p.Arg130Trp |