Linked Data
ClinVar Variation Id:
873611
dbSNP Id:
rs147220426
ExAC:
1:116226668 T / C
gnomAD v2:
1-116226668-T-C
gnomAD v3:
1-115684047-T-C
gnomAD v4:
1-115684047-T-C
COSMIC:
COSM894348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115684047T>C , CM000663.2:g.115684047T>C | GRCh38 |
| NC_000001.10:g.116226668T>C , CM000663.1:g.116226668T>C | GRCh37 |
| NC_000001.9:g.116028191T>C | NCBI36 |
| NG_016548.1:g.47095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.1050T>C MANE Select | ENSP00000347672.2:p.His350= | |
| ENST00000310260.7:c.1050T>C | ENSP00000310800.3:p.His350= | |
| ENST00000355485.6:c.1050T>C | ENSP00000347672.2:p.His350= | |
| ENST00000369509.1:c.1050T>C | ENSP00000358522.1:p.His350= | |
| ENST00000369510.8:c.1044T>C | ENSP00000358523.3:p.His348= | |
| ENST00000474344.1:n.432T>C | ||
| ENST00000478369.5:n.334T>C | ||
| NM_001172411.1:c.1044T>C | NP_001165882.1:p.His348= | |
| NM_001172412.1:c.1050T>C | NP_001165883.1:p.His350= | |
| NM_138959.2:c.1050T>C | NP_620409.1:p.His350= | |
| NM_138959.3:c.1050T>C MANE Select | NP_620409.1:p.His350= | |
| NM_001172411.2:c.1044T>C | NP_001165882.1:p.His348= | |
| NM_001172412.2:c.1050T>C | NP_001165883.1:p.His350= |