Linked Data
ClinVar Variation Id:
1658
ClinVar RCV Id:
RCV001195100
dbSNP Id:
rs28934604
gnomAD v4:
12-57766073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766073C>T , CM000674.2:g.57766073C>T | GRCh38 |
| NC_000012.11:g.58159856C>T , CM000674.1:g.58159856C>T | GRCh37 |
| NC_000012.10:g.56446123C>T | NCBI36 |
| NG_007076.1:g.6121G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.232G>A | ||
| ENST00000713544.1:c.320G>A | ENSP00000518840.1:p.Arg107His | |
| ENST00000713545.1:c.320G>A | ENSP00000518841.1:p.Arg107His | |
| ENST00000228606.9:c.320G>A MANE Select | ENSP00000228606.4:p.Arg107His | |
| ENST00000228606.8:c.320G>A | ENSP00000228606.4:p.Arg107His | |
| ENST00000546496.1:n.148G>A | ||
| ENST00000546609.1:c.232G>A | ||
| ENST00000547344.5:n.374G>A | ||
| ENST00000552186.1:n.439G>A | ||
| NM_000785.3:c.320G>A | NP_000776.1:p.Arg107His | |
| NM_000785.4:c.320G>A MANE Select | NP_000776.1:p.Arg107His |