Linked Data
ClinVar Variation Id:
402174
ClinVar RCV Id:
RCV000454305
dbSNP Id:
rs1060499754
gnomAD v4:
17-19797472-T-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19797472T>C , CM000679.2:g.19797472T>C | GRCh38 |
| NC_000017.10:g.19700785T>C , CM000679.1:g.19700785T>C | GRCh37 |
| NC_000017.9:g.19641377T>C | NCBI36 |
| NG_047113.1:g.75455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395544.9:c.1733A>G MANE Select | ENSP00000378914.4:p.His578Arg | |
| ENST00000361658.6:c.1733A>G | ENSP00000354877.2:p.His578Arg | |
| ENST00000395544.8:c.1733A>G | ENSP00000378914.4:p.His578Arg | |
| NM_001142610.1:c.1733A>G | NP_001136082.1:p.His578Arg | |
| NM_014683.3:c.1733A>G | NP_055498.3:p.His578Arg | |
| XM_011524087.1:c.1379A>G | XP_011522389.1:p.His460Arg | |
| XR_934124.1:n.2067A>G | ||
| XR_934125.1:n.2067A>G | ||
| XM_011524087.2:c.1379A>G | XP_011522389.1:p.His460Arg | |
| XM_017025424.2:c.1796A>G | XP_016880913.1:p.His599Arg | |
| XM_017025425.2:c.1796A>G | XP_016880914.1:p.His599Arg | |
| XM_017025426.2:c.1796A>G | XP_016880915.1:p.His599Arg | |
| XM_017025427.2:c.956A>G | XP_016880916.1:p.His319Arg | |
| XM_017025428.2:c.956A>G | XP_016880917.1:p.His319Arg | |
| XR_001752700.2:n.2276A>G | ||
| XR_001752701.2:n.2276A>G | ||
| NM_014683.4:c.1733A>G MANE Select | NP_055498.3:p.His578Arg | |
| NM_001142610.2:c.1733A>G | NP_001136082.1:p.His578Arg |