Linked Data
ClinVar Variation Id:
1669
dbSNP Id:
rs118204009
ExAC:
12:58157930 C / T
gnomAD v2:
12-58157930-C-T
gnomAD v3:
12-57764147-C-T
gnomAD v4:
12-57764147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764147C>T , CM000674.2:g.57764147C>T | GRCh38 |
| NC_000012.11:g.58157930C>T , CM000674.1:g.58157930C>T | GRCh37 |
| NC_000012.10:g.56444197C>T | NCBI36 |
| NG_007076.1:g.8047G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1247G>A | ENSP00000518840.1:p.Arg416His | |
| ENST00000713545.1:c.*171G>A | ENSP00000518841.1:n.*171G>A | |
| ENST00000228606.9:c.1166G>A MANE Select | ENSP00000228606.4:p.Arg389His | |
| ENST00000228606.8:c.1166G>A | ENSP00000228606.4:p.Arg389His | |
| ENST00000546567.5:c.461G>A | ENSP00000449472.1:p.Arg154His | |
| ENST00000547344.5:n.1305G>A | ||
| NM_000785.3:c.1166G>A | NP_000776.1:p.Arg389His | |
| NM_000785.4:c.1166G>A MANE Select | NP_000776.1:p.Arg389His |