Linked Data
ClinVar Variation Id:
446157
ClinVar RCV Id:
RCV000515250
dbSNP Id:
rs1554852272
PubMed:
PMID:28965847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102592654A>G , CM000672.2:g.102592654A>G | GRCh38 |
| NC_000010.10:g.104352411A>G , CM000672.1:g.104352411A>G | GRCh37 |
| NC_000010.9:g.104342401A>G | NCBI36 |
| NG_021338.1:g.93693A>G , LRG_521:g.93693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.527A>G MANE Select | ENSP00000358918.4:p.His176Arg | |
| ENST00000369899.6:c.527A>G | ENSP00000358915.2:p.His176Arg | |
| ENST00000369902.7:c.527A>G | ENSP00000358918.3:p.His176Arg | |
| ENST00000423559.2:c.527A>G | ENSP00000411597.2:p.His176Arg | |
| ENST00000471000.1:n.309A>G | ||
| NM_001178133.1:c.527A>G | NP_001171604.1:p.His176Arg | |
| NM_016169.3:c.527A>G , LRG_521t1:c.527A>G | NP_057253.2:p.His176Arg | |
| XM_011539858.1:c.527A>G | XP_011538160.1:p.His176Arg | |
| XM_011539859.1:c.527A>G | XP_011538161.1:p.His176Arg | |
| XM_011539860.1:c.527A>G | XP_011538162.1:p.His176Arg | |
| XM_011539861.1:c.527A>G | XP_011538163.1:p.His176Arg | |
| XM_011539862.1:c.449A>G | XP_011538164.1:p.His150Arg | |
| XM_011539863.1:c.353A>G | XP_011538165.1:p.His118Arg | |
| XM_011539864.1:c.527A>G | XP_011538166.1:p.His176Arg | |
| XM_011539858.3:c.527A>G | XP_011538160.1:p.His176Arg | |
| XM_011539860.3:c.527A>G | XP_011538162.1:p.His176Arg | |
| XM_011539861.3:c.527A>G | XP_011538163.1:p.His176Arg | |
| XM_011539863.3:c.353A>G | XP_011538165.1:p.His118Arg | |
| XM_011539864.3:c.527A>G | XP_011538166.1:p.His176Arg | |
| XM_017016323.1:c.449A>G | XP_016871812.1:p.His150Arg | |
| NM_001178133.2:c.527A>G | NP_001171604.1:p.His176Arg | |
| NM_016169.4:c.527A>G MANE Select | NP_057253.2:p.His176Arg |