Linked Data
ClinVar Variation Id:
374797
ClinVar RCV Id:
RCV000415489
dbSNP Id:
rs1057519092
PubMed:
PMID:28487885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129957325G>A , CM000672.2:g.129957325G>A | GRCh38 |
| NC_000010.10:g.131755589G>A , CM000672.1:g.131755589G>A | GRCh37 |
| NC_000010.9:g.131645579G>A | NCBI36 |
| NG_030038.1:g.11503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682649.1:n.437C>T | ||
| ENST00000355311.10:c.487C>T | ENSP00000347463.4:p.Arg163Trp | |
| ENST00000368648.8:c.487C>T | ENSP00000357637.3:p.Arg163Trp | |
| ENST00000440978.2:c.487C>T MANE Select | ENSP00000387543.2:p.Arg163Trp | |
| ENST00000675373.1:n.159C>T | ||
| ENST00000355311.9:c.487C>T | ENSP00000347463.4:p.Arg163Trp | |
| ENST00000368648.7:c.487C>T | ENSP00000357637.3:p.Arg163Trp | |
| NM_001005463.2:c.487C>T | NP_001005463.1:p.Arg163Trp | |
| XM_005252667.2:c.487C>T | XP_005252724.1:p.Arg163Trp | |
| XM_005252668.2:c.487C>T | XP_005252725.1:p.Arg163Trp | |
| XM_005252669.2:c.487C>T | XP_005252726.1:p.Arg163Trp | |
| XM_006717739.2:c.487C>T | XP_006717802.1:p.Arg163Trp | |
| XM_006717740.2:c.487C>T | XP_006717803.1:p.Arg163Trp | |
| XM_006717741.2:c.487C>T | XP_006717804.1:p.Arg163Trp | |
| XM_006717742.2:c.487C>T | XP_006717805.1:p.Arg163Trp | |
| XM_006717743.2:c.487C>T | XP_006717806.1:p.Arg163Trp | |
| XM_006717744.2:c.487C>T | XP_006717807.1:p.Arg163Trp | |
| XM_011539574.1:c.487C>T | XP_011537876.1:p.Arg163Trp | |
| XM_011539576.1:c.487C>T | XP_011537878.1:p.Arg163Trp | |
| XM_005252667.3:c.487C>T | XP_005252724.1:p.Arg163Trp | |
| XM_005252668.3:c.487C>T | XP_005252725.1:p.Arg163Trp | |
| XM_005252669.3:c.487C>T | XP_005252726.1:p.Arg163Trp | |
| XM_006717739.3:c.487C>T | XP_006717802.1:p.Arg163Trp | |
| XM_006717740.3:c.487C>T | XP_006717803.1:p.Arg163Trp | |
| XM_006717741.3:c.487C>T | XP_006717804.1:p.Arg163Trp | |
| XM_006717742.3:c.487C>T | XP_006717805.1:p.Arg163Trp | |
| XM_006717743.3:c.487C>T | XP_006717806.1:p.Arg163Trp | |
| XM_006717744.3:c.487C>T | XP_006717807.1:p.Arg163Trp | |
| XM_011539574.2:c.487C>T | XP_011537876.1:p.Arg163Trp | |
| XM_017016027.1:c.487C>T | XP_016871516.1:p.Arg163Trp | |
| XR_001747076.1:n.993C>T | ||
| NM_001005463.3:c.487C>T | NP_001005463.1:p.Arg163Trp | |
| NM_001375379.1:c.487C>T | NP_001362308.1:p.Arg163Trp | |
| NM_001375380.1:c.487C>T MANE Select | NP_001362309.1:p.Arg163Trp | |
| NM_001375389.1:c.487C>T | NP_001362318.1:p.Arg163Trp | |
| NM_001375390.1:c.487C>T | NP_001362319.1:p.Arg163Trp | |
| NM_001375391.1:c.487C>T | NP_001362320.1:p.Arg163Trp | |
| NM_001375392.1:c.487C>T | NP_001362321.1:p.Arg163Trp |