Linked Data
ClinVar Variation Id:
21415
ClinVar RCV Id:
RCV000020601
dbSNP Id:
rs118192249
ExAC:
8:133187708 A / G
gnomAD v2:
8-133187708-A-G
gnomAD v4:
8-132175461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175461A>G , CM000670.2:g.132175461A>G | GRCh38 |
| NC_000008.10:g.133187708A>G , CM000670.1:g.133187708A>G | GRCh37 |
| NC_000008.9:g.133256890A>G | NCBI36 |
| NG_008854.2:g.310297T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388996.10:c.925T>C MANE Select | ENSP00000373648.3:p.Trp309Arg | |
| ENST00000521134.6:c.565T>C | ENSP00000429799.1:p.Trp189Arg | |
| ENST00000638588.1:c.598T>C | ENSP00000491940.1:p.Trp200Arg | |
| ENST00000639358.1:c.575T>C | ||
| ENST00000639496.1:c.598T>C | ENSP00000491165.1:p.Trp200Arg | |
| ENST00000388996.8:c.925T>C | ENSP00000373648.3:p.Trp309Arg | |
| ENST00000519445.5:c.925T>C | ENSP00000428790.1:p.Trp309Arg | |
| ENST00000519589.1:n.703T>C | ||
| ENST00000521134.5:c.565T>C | ENSP00000429799.1:p.Trp189Arg | |
| ENST00000621976.1:c.562T>C | ENSP00000482510.1:p.Trp188Arg | |
| NM_001204824.1:c.565T>C | NP_001191753.1:p.Trp189Arg | |
| NM_004519.3:c.925T>C | NP_004510.1:p.Trp309Arg | |
| XM_005250914.2:c.-232T>C | XP_005250971.1:n.-232T>C | |
| XM_006716555.2:c.217T>C | XP_006716618.1:p.Trp73Arg | |
| XM_011517026.1:c.565T>C | XP_011515328.1:p.Trp189Arg | |
| XM_005250914.3:c.-232T>C | XP_005250971.1:n.-232T>C | |
| XM_006716555.3:c.217T>C | XP_006716618.1:p.Trp73Arg | |
| XM_011517026.2:c.565T>C | XP_011515328.1:p.Trp189Arg | |
| XM_017013400.1:c.703T>C | XP_016868889.1:p.Trp235Arg | |
| NM_004519.4:c.925T>C MANE Select | NP_004510.1:p.Trp309Arg | |
| NM_001204824.2:c.565T>C | NP_001191753.1:p.Trp189Arg |