Linked Data
ClinVar Variation Id:
2980779
ClinVar RCV Id:
RCV003839937
dbSNP Id:
rs1319730823
gnomAD v3:
12-57764125-A-G
gnomAD v4:
12-57764125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764125A>G , CM000674.2:g.57764125A>G | GRCh38 |
| NC_000012.11:g.58157908A>G , CM000674.1:g.58157908A>G | GRCh37 |
| NC_000012.10:g.56444175A>G | NCBI36 |
| NG_007076.1:g.8069T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1269T>C | ENSP00000518840.1:p.His423= | |
| ENST00000713545.1:c.*193T>C | ENSP00000518841.1:n.*193T>C | |
| ENST00000228606.9:c.1188T>C MANE Select | ENSP00000228606.4:p.His396= | |
| ENST00000228606.8:c.1188T>C | ENSP00000228606.4:p.His396= | |
| ENST00000547344.5:n.1327T>C | ||
| NM_000785.3:c.1188T>C | NP_000776.1:p.His396= | |
| NM_000785.4:c.1188T>C MANE Select | NP_000776.1:p.His396= |