Linked Data
ClinVar Variation Id:
291579
dbSNP Id:
rs772429569
ExAC:
1:10421758 T / C
gnomAD v2:
1-10421758-T-C
gnomAD v3:
1-10361700-T-C
gnomAD v4:
1-10361700-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10361700T>C , CM000663.2:g.10361700T>C | GRCh38 |
| NC_000001.10:g.10421758T>C , CM000663.1:g.10421758T>C | GRCh37 |
| NC_000001.9:g.10344345T>C | NCBI36 |
| NG_008069.1:g.155995T>C , LRG_252:g.155995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.4242T>C | ENSP00000512668.1:p.His1414= | |
| ENST00000696503.1:c.4104T>C | ENSP00000512669.1:p.His1368= | |
| ENST00000696504.1:c.4104T>C | ENSP00000512670.1:p.His1368= | |
| ENST00000676179.1:c.4179T>C MANE Select | ENSP00000502065.1:p.His1393= | |
| ENST00000263934.10:c.4041T>C | ENSP00000263934.6:p.His1347= | |
| ENST00000377081.5:c.4179T>C | ENSP00000366284.1:p.His1393= | |
| ENST00000377086.5:c.4179T>C | ENSP00000366290.1:p.His1393= | |
| ENST00000465635.5:n.634T>C | ||
| ENST00000483340.1:n.715T>C | ||
| ENST00000620295.2:c.4137T>C | ENSP00000478500.1:p.His1379= | |
| ENST00000622724.3:c.4101T>C | ENSP00000480063.1:p.His1367= | |
| ENST00000635499.1:c.224T>C | ||
| NM_015074.3:c.4041T>C , LRG_252t1:c.4041T>C | NP_055889.2:p.His1347= | |
| XR_946953.1:n.356-234A>G | ||
| NM_001365951.1:c.4179T>C | NP_001352880.1:p.His1393= | |
| NM_001365952.1:c.4179T>C | NP_001352881.1:p.His1393= | |
| XR_946953.2:n.231-234A>G | ||
| NM_001365951.3:c.4179T>C MANE Select | NP_001352880.1:p.His1393= |