Linked Data
ClinVar Variation Id:
543329
dbSNP Id:
rs145390629
ExAC:
5:148386475 C / T
gnomAD v2:
5-148386475-C-T
gnomAD v3:
5-149006912-C-T
gnomAD v4:
5-149006912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149006912C>T , CM000667.2:g.149006912C>T | GRCh38 |
| NC_000005.9:g.148386475C>T , CM000667.1:g.148386475C>T | GRCh37 |
| NC_000005.8:g.148366668C>T | NCBI36 |
| NG_007947.2:g.61263G>A , LRG_269:g.61263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4497G>A | ||
| ENST00000515425.6:c.3644G>A MANE Select | ENSP00000423660.1:p.Arg1215His | |
| ENST00000643113.1:c.1G>A | ||
| ENST00000675793.1:c.*4701G>A | ENSP00000502039.1:n.*4701G>A | |
| ENST00000323829.9:c.*3032G>A | ENSP00000313025.5:n.*3032G>A | |
| ENST00000502274.1:c.230G>A | ENSP00000421092.1:p.Arg77His | |
| ENST00000504517.5:c.3166G>A | ENSP00000421779.1:n.3166G>A | |
| ENST00000504690.5:c.3644G>A | ENSP00000425627.1:p.Arg1215His | |
| ENST00000510350.1:n.200G>A | ||
| ENST00000510779.1:c.2694G>A | ||
| ENST00000512049.5:c.3623G>A | ENSP00000421860.1:p.Arg1208His | |
| ENST00000515229.5:n.306G>A | ||
| ENST00000515425.5:c.3644G>A | ENSP00000423660.1:p.Arg1215His | |
| NM_024577.3:c.3644G>A , LRG_269t1:c.3644G>A | NP_078853.2:p.Arg1215His | |
| NM_024577.4:c.3644G>A MANE Select | NP_078853.2:p.Arg1215His |