Linked Data
ClinVar Variation Id:
205398
dbSNP Id:
rs374661645
ExAC:
6:52288831 C / T
gnomAD v2:
6-52288831-C-T
gnomAD v3:
6-52424033-C-T
gnomAD v4:
6-52424033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52424033C>T , CM000668.2:g.52424033C>T | GRCh38 |
| NC_000006.11:g.52288831C>T , CM000668.1:g.52288831C>T | GRCh37 |
| NC_000006.10:g.52396790C>T | NCBI36 |
| NG_016760.1:g.8838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.151C>T MANE Select | ENSP00000360107.4:p.Arg51Trp | |
| ENST00000480623.6:c.151C>T | ENSP00000434498.2:p.Arg51Trp | |
| ENST00000491749.2:n.175C>T | ||
| ENST00000635760.1:c.-174C>T | ENSP00000489765.1:n.-174C>T | |
| ENST00000635812.1:c.151C>T | ENSP00000490859.1:p.Arg51Trp | |
| ENST00000635843.1:n.189C>T | ||
| ENST00000635866.1:c.151C>T | ENSP00000489866.1:p.Arg51Trp | |
| ENST00000635911.1:n.412C>T | ||
| ENST00000635963.1:c.151C>T | ENSP00000489852.1:p.Arg51Trp | |
| ENST00000635984.1:c.-174C>T | ENSP00000489921.1:n.-174C>T | |
| ENST00000635996.1:c.151C>T | ENSP00000490256.1:p.Arg51Trp | |
| ENST00000636107.1:c.151C>T | ENSP00000489680.1:p.Arg51Trp | |
| ENST00000636311.1:n.182C>T | ||
| ENST00000636379.1:c.151C>T | ENSP00000490622.1:p.Arg51Trp | |
| ENST00000636489.1:c.94C>T | ENSP00000489998.1:p.Arg32Trp | |
| ENST00000636566.1:c.-174C>T | ENSP00000490602.1:n.-174C>T | |
| ENST00000636702.1:c.121C>T | ENSP00000489623.1:p.Arg41Trp | |
| ENST00000636954.1:c.94C>T | ENSP00000489966.1:p.Arg32Trp | |
| ENST00000637089.1:c.151C>T | ENSP00000489854.1:p.Arg51Trp | |
| ENST00000637200.1:c.151C>T | ENSP00000490567.1:p.Arg51Trp | |
| ENST00000637263.1:c.151C>T | ENSP00000489700.1:p.Arg51Trp | |
| ENST00000637315.1:c.133C>T | ENSP00000489708.1:p.Arg45Trp | |
| ENST00000637340.1:n.819C>T | ||
| ENST00000637353.1:c.151C>T | ENSP00000490441.1:p.Arg51Trp | |
| ENST00000637602.1:c.151C>T | ENSP00000490074.1:p.Arg51Trp | |
| ENST00000637849.1:n.215C>T | ||
| ENST00000637892.1:n.355C>T | ||
| ENST00000638075.1:c.-389C>T | ENSP00000490711.1:n.-389C>T | |
| ENST00000638140.1:n.265C>T | ||
| ENST00000371068.9:c.151C>T | ENSP00000360107.4:p.Arg51Trp | |
| ENST00000480623.5:c.151C>T | ENSP00000434498.1:p.Arg51Trp | |
| ENST00000491749.1:n.200C>T | ||
| ENST00000538167.2:c.94C>T | ENSP00000444521.1:p.Arg32Trp | |
| NM_001172420.1:c.94C>T | NP_001165891.1:p.Arg32Trp | |
| NM_018100.3:c.151C>T | NP_060570.2:p.Arg51Trp | |
| NR_033327.1:n.366C>T | ||
| NM_018100.4:c.151C>T MANE Select | NP_060570.2:p.Arg51Trp | |
| NM_001172420.2:c.94C>T | NP_001165891.1:p.Arg32Trp | |
| NR_033327.2:n.220C>T |