Linked Data
ClinVar Variation Id:
1327417
ClinVar RCV Id:
RCV001787697
dbSNP Id:
rs20455
ExAC:
6:39325078 A / G
gnomAD v2:
6-39325078-A-G
gnomAD v3:
6-39357302-A-G
gnomAD v4:
6-39357302-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39357302A>G , CM000668.2:g.39357302A>G | GRCh38 |
| NC_000006.11:g.39325078A>G , CM000668.1:g.39325078A>G | GRCh37 |
| NC_000006.10:g.39433056A>G | NCBI36 |
| NG_054928.1:g.373123T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287152.12:c.2155T>C MANE Select | ENSP00000287152.7:p.Trp719Arg | |
| ENST00000229913.9:c.508T>C | ENSP00000229913.5:p.Trp170Arg | |
| ENST00000287152.11:c.2155T>C | ENSP00000287152.7:p.Trp719Arg | |
| ENST00000394362.5:c.508T>C | ENSP00000377889.1:p.Trp170Arg | |
| ENST00000458470.5:c.1830T>C | ||
| ENST00000538893.5:c.508T>C | ENSP00000441435.2:p.Trp170Arg | |
| NM_001289020.1:c.2104T>C | NP_001275949.1:p.Trp702Arg | |
| NM_001289021.1:c.1987T>C | NP_001275950.1:p.Trp663Arg | |
| NM_001289024.1:c.508T>C | NP_001275953.1:p.Trp170Arg | |
| NM_145027.4:c.2155T>C | NP_659464.3:p.Trp719Arg | |
| XM_005248904.3:c.2155T>C | XP_005248961.1:p.Trp719Arg | |
| XM_011514357.1:c.2155T>C | XP_011512659.1:p.Trp719Arg | |
| XM_011514358.1:c.2155T>C | XP_011512660.1:p.Trp719Arg | |
| XM_011514359.1:c.2155T>C | XP_011512661.1:p.Trp719Arg | |
| XM_011514360.1:c.1528T>C | XP_011512662.1:p.Trp510Arg | |
| NM_001289020.2:c.2104T>C | NP_001275949.1:p.Trp702Arg | |
| NM_001289021.2:c.1987T>C | NP_001275950.1:p.Trp663Arg | |
| NM_001289024.2:c.508T>C | NP_001275953.1:p.Trp170Arg | |
| NM_001351566.1:c.508T>C | NP_001338495.1:p.Trp170Arg | |
| NM_145027.5:c.2155T>C | NP_659464.3:p.Trp719Arg | |
| XM_005248904.4:c.2155T>C | XP_005248961.1:p.Trp719Arg | |
| XM_011514357.3:c.2155T>C | XP_011512659.1:p.Trp719Arg | |
| XM_011514358.3:c.2155T>C | XP_011512660.1:p.Trp719Arg | |
| XM_011514359.3:c.2155T>C | XP_011512661.1:p.Trp719Arg | |
| XM_017010427.1:c.1846T>C | XP_016865916.1:p.Trp616Arg | |
| XM_017010428.1:c.1510T>C | XP_016865917.1:p.Trp504Arg | |
| XR_001744111.1:n.75+5354A>G | ||
| NM_145027.6:c.2155T>C MANE Select | NP_659464.3:p.Trp719Arg | |
| NM_001289020.3:c.2104T>C | NP_001275949.1:p.Trp702Arg | |
| NM_001289021.3:c.1987T>C | NP_001275950.1:p.Trp663Arg | |
| NM_001289024.3:c.508T>C | NP_001275953.1:p.Trp170Arg | |
| NM_001351566.2:c.508T>C | NP_001338495.1:p.Trp170Arg |