Linked Data
ClinVar Variation Id:
2268194
ClinVar RCV Id:
RCV004123119
dbSNP Id:
rs780158807
gnomAD v2:
2-15763607-C-T
gnomAD v4:
2-15623483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15623483C>T , CM000664.2:g.15623483C>T | GRCh38 |
| NC_000002.11:g.15763607C>T , CM000664.1:g.15763607C>T | GRCh37 |
| NC_000002.10:g.15681058C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233084.8:c.1495C>T MANE Select | ENSP00000233084.3:p.Arg499Trp | |
| ENST00000381341.7:c.1495C>T | ENSP00000370745.1:p.Arg499Trp | |
| ENST00000434671.2:c.1495C>T | ENSP00000413767.2:p.Arg499Trp | |
| ENST00000470674.2:n.2228C>T | ||
| ENST00000478695.2:n.1696C>T | ||
| ENST00000617198.5:c.1219C>T | ENSP00000482416.2:p.Arg407Trp | |
| ENST00000621973.2:c.1183C>T | ENSP00000484958.2:p.Arg395Trp | |
| ENST00000676635.1:c.*18C>T | ENSP00000504060.1:n.*18C>T | |
| ENST00000676759.1:n.1696C>T | ||
| ENST00000676916.1:c.1477C>T | ENSP00000503949.1:p.Arg493Trp | |
| ENST00000676937.1:c.1366C>T | ENSP00000503720.1:p.Arg456Trp | |
| ENST00000677302.1:c.1495C>T | ENSP00000504080.1:p.Arg499Trp | |
| ENST00000677355.1:c.*440C>T | ENSP00000503705.1:n.*440C>T | |
| ENST00000677437.1:c.*474C>T | ENSP00000504817.1:n.*474C>T | |
| ENST00000677552.1:c.*1038C>T | ENSP00000504225.1:n.*1038C>T | |
| ENST00000677649.1:n.2969C>T | ||
| ENST00000678137.1:c.1462C>T | ENSP00000503001.1:p.Arg488Trp | |
| ENST00000678391.1:c.*1038C>T | ENSP00000503358.1:n.*1038C>T | |
| ENST00000678536.1:n.1696C>T | ||
| ENST00000678594.1:c.1366C>T | ENSP00000502982.1:p.Arg456Trp | |
| ENST00000678755.1:n.1696C>T | ||
| ENST00000678786.1:c.1495C>T | ENSP00000502926.1:p.Arg499Trp | |
| ENST00000679227.1:n.1696C>T | ||
| ENST00000233084.7:c.1495C>T | ENSP00000233084.3:p.Arg499Trp | |
| ENST00000381341.6:c.1495C>T | ENSP00000370745.1:p.Arg499Trp | |
| ENST00000470674.1:n.73C>T | ||
| ENST00000617198.4:c.1252C>T | ENSP00000482416.1:p.Arg418Trp | |
| ENST00000621973.1:c.1252C>T | ENSP00000484958.1:p.Arg418Trp | |
| NM_004939.2:c.1495C>T | NP_004930.1:p.Arg499Trp | |
| NM_004939.3:c.1495C>T MANE Select | NP_004930.1:p.Arg499Trp |