Linked Data
ClinVar Variation Id:
430853
ClinVar RCV Id:
RCV000577924
dbSNP Id:
rs778361520
ExAC:
1:32194222 G / A
gnomAD v2:
1-32194222-G-A
gnomAD v3:
1-31728621-G-A
gnomAD v4:
1-31728621-G-A
PubMed:
PMID:28891236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31728621G>A , CM000663.2:g.31728621G>A | GRCh38 |
| NC_000001.10:g.32194222G>A , CM000663.1:g.32194222G>A | GRCh37 |
| NC_000001.9:g.31966809G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373658.8:c.4393C>T MANE Select | ENSP00000362762.3:p.Arg1465Trp | |
| ENST00000373655.6:c.4393C>T | ENSP00000362759.2:p.Arg1465Trp | |
| ENST00000373658.7:c.4393C>T | ENSP00000362762.3:p.Arg1465Trp | |
| ENST00000398538.5:c.4357C>T | ENSP00000381548.1:p.Arg1453Trp | |
| ENST00000398542.5:c.4093C>T | ENSP00000381550.1:p.Arg1365Trp | |
| ENST00000398547.5:c.4192C>T | ENSP00000381555.1:p.Arg1398Trp | |
| ENST00000398556.7:c.4138C>T | ENSP00000381564.3:p.Arg1380Trp | |
| ENST00000465256.5:n.1850C>T | ||
| ENST00000527361.5:c.4294C>T | ENSP00000435397.1:p.Arg1432Trp | |
| ENST00000530999.1:n.1106C>T | ||
| NM_001294335.1:c.4393C>T | NP_001281264.1:p.Arg1465Trp | |
| NM_001294336.1:c.4294C>T | NP_001281265.1:p.Arg1432Trp | |
| XM_011541848.1:c.4393C>T | XP_011540150.1:p.Arg1465Trp | |
| XM_011541849.1:c.4357C>T | XP_011540151.1:p.Arg1453Trp | |
| XM_011541850.1:c.4393C>T | XP_011540152.1:p.Arg1465Trp | |
| XM_011541851.1:c.4294C>T | XP_011540153.1:p.Arg1432Trp | |
| XM_011541852.1:c.4228C>T | XP_011540154.1:p.Arg1410Trp | |
| XM_011541853.1:c.4228C>T | XP_011540155.1:p.Arg1410Trp | |
| XM_011541854.1:c.4228C>T | XP_011540156.1:p.Arg1410Trp | |
| XM_011541855.1:c.4129C>T | XP_011540157.1:p.Arg1377Trp | |
| XM_011541856.1:c.4129C>T | XP_011540158.1:p.Arg1377Trp | |
| XM_011541857.1:c.4063C>T | XP_011540159.1:p.Arg1355Trp | |
| XM_011541858.1:c.3484C>T | XP_011540160.1:p.Arg1162Trp | |
| XM_011541859.1:c.2569C>T | XP_011540161.1:p.Arg857Trp | |
| NM_001364857.1:c.4393C>T | NP_001351786.1:p.Arg1465Trp | |
| XM_011541848.3:c.4393C>T | XP_011540150.1:p.Arg1465Trp | |
| XM_011541849.2:c.4357C>T | XP_011540151.1:p.Arg1453Trp | |
| XM_011541858.2:c.3484C>T | XP_011540160.1:p.Arg1162Trp | |
| XM_017001899.1:c.4393C>T | XP_016857388.1:p.Arg1465Trp | |
| XM_017001900.1:c.4393C>T | XP_016857389.1:p.Arg1465Trp | |
| XM_017001901.1:c.4393C>T | XP_016857390.1:p.Arg1465Trp | |
| XM_017001902.1:c.4393C>T | XP_016857391.1:p.Arg1465Trp | |
| XM_017001903.1:c.4324C>T | XP_016857392.1:p.Arg1442Trp | |
| XM_017001904.1:c.4294C>T | XP_016857393.1:p.Arg1432Trp | |
| XM_017001905.1:c.4294C>T | XP_016857394.1:p.Arg1432Trp | |
| XM_017001906.1:c.4294C>T | XP_016857395.1:p.Arg1432Trp | |
| XM_017001907.1:c.4228C>T | XP_016857396.1:p.Arg1410Trp | |
| XM_017001908.1:c.4228C>T | XP_016857397.1:p.Arg1410Trp | |
| XM_017001909.1:c.4228C>T | XP_016857398.1:p.Arg1410Trp | |
| XM_017001910.1:c.4129C>T | XP_016857399.1:p.Arg1377Trp | |
| XM_017001911.1:c.4129C>T | XP_016857400.1:p.Arg1377Trp | |
| XM_017001912.1:c.4063C>T | XP_016857401.1:p.Arg1355Trp | |
| XM_024448673.1:c.4357C>T | XP_024304441.1:p.Arg1453Trp | |
| NM_001294335.2:c.4393C>T | NP_001281264.1:p.Arg1465Trp | |
| NM_001294336.2:c.4294C>T | NP_001281265.1:p.Arg1432Trp | |
| NM_001364857.2:c.4393C>T MANE Select | NP_001351786.1:p.Arg1465Trp |