Linked Data
ClinVar Variation Id:
369585
ClinVar RCV Id:
RCV000391664
dbSNP Id:
rs10951154
ExAC:
7:27135314 C / T
gnomAD v2:
7-27135314-C-T
gnomAD v3:
7-27095695-C-T
gnomAD v4:
7-27095695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095695C>T , CM000669.2:g.27095695C>T | GRCh38 |
| NC_000007.13:g.27135314C>T , CM000669.1:g.27135314C>T | GRCh37 |
| NC_000007.12:g.27101839C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643460.2:c.218G>A MANE Select | ENSP00000494260.2:p.Arg73His | |
| ENST00000343060.4:c.218G>A | ENSP00000343246.4:p.Arg73His | |
| ENST00000355633.5:c.218G>A | ENSP00000347851.5:p.Arg73His | |
| NM_005522.5:c.218G>A MANE Select | NP_005513.2:p.Arg73His | |
| NM_153620.3:c.218G>A | NP_705873.3:p.Arg73His |