Linked Data
ClinVar Variation Id:
161795
ClinVar RCV Id:
RCV000149331
dbSNP Id:
rs193920771
COSMIC:
COSM1179190
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.786368T>C , CM000678.2:g.786368T>C | GRCh38 |
| NC_000016.9:g.836368T>C , CM000678.1:g.836368T>C | GRCh37 |
| NC_000016.8:g.776369T>C | NCBI36 |
| NG_047098.1:g.7020A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000007264.7:c.521A>G MANE Select | ENSP00000007264.2:p.His174Arg | |
| ENST00000007264.6:c.521A>G | ENSP00000007264.2:p.His174Arg | |
| ENST00000561734.5:c.521A>G | ENSP00000455026.1:p.His174Arg | |
| ENST00000562070.1:c.780A>G | ||
| ENST00000565377.1:c.134A>G | ENSP00000456692.1:p.His45Arg | |
| ENST00000565809.5:c.*22A>G | ENSP00000457722.1:n.*22A>G | |
| ENST00000567114.5:c.134A>G | ENSP00000455862.1:p.His45Arg | |
| ENST00000567283.5:c.*105A>G | ENSP00000457527.1:n.*105A>G | |
| ENST00000569601.5:c.143A>G | ENSP00000454616.1:p.His48Arg | |
| NM_058192.2:c.521A>G | NP_478072.1:p.His174Arg | |
| XM_011522352.1:c.530A>G | XP_011520654.1:p.His177Arg | |
| NM_001324086.1:c.530A>G | NP_001311015.1:p.His177Arg | |
| NM_001324410.1:c.143A>G | NP_001311339.1:p.His48Arg | |
| NM_001324411.1:c.*22A>G | NP_001311340.1:n.*22A>G | |
| NM_001324412.1:c.134A>G | NP_001311341.1:p.His45Arg | |
| NM_001324413.1:c.134A>G | NP_001311342.1:p.His45Arg | |
| NM_001324414.1:c.134A>G | NP_001311343.1:p.His45Arg | |
| NM_001324415.1:c.134A>G | NP_001311344.1:p.His45Arg | |
| NM_058192.3:c.521A>G MANE Select | NP_478072.1:p.His174Arg | |
| NM_001324086.2:c.530A>G | NP_001311015.1:p.His177Arg | |
| NM_001324410.2:c.143A>G | NP_001311339.1:p.His48Arg | |
| NM_001324411.2:c.*22A>G | NP_001311340.1:n.*22A>G | |
| NM_001324412.2:c.134A>G | NP_001311341.1:p.His45Arg | |
| NM_001324413.2:c.134A>G | NP_001311342.1:p.His45Arg | |
| NM_001324414.2:c.134A>G | NP_001311343.1:p.His45Arg | |
| NM_001324415.2:c.134A>G | NP_001311344.1:p.His45Arg | |
| NM_001369658.1:c.473A>G | NP_001356587.1:p.His158Arg | |
| NM_001369659.1:c.143A>G | NP_001356588.1:p.His48Arg | |
| NM_001369660.1:c.134A>G | NP_001356589.1:p.His45Arg |