Linked Data
ClinVar Variation Id:
309994
ClinVar RCV Id:
RCV000266794
dbSNP Id:
rs147119803
gnomAD v3:
12-57763066-C-T
gnomAD v4:
12-57763066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763066C>T , CM000674.2:g.57763066C>T | GRCh38 |
| NC_000012.11:g.58156849C>T , CM000674.1:g.58156849C>T | GRCh37 |
| NC_000012.10:g.56443116C>T | NCBI36 |
| NG_007076.1:g.9128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.*76G>A | ENSP00000518840.1:n.*76G>A | |
| ENST00000713545.1:c.*608G>A | ENSP00000518841.1:n.*608G>A | |
| ENST00000228606.9:c.*76G>A MANE Select | ENSP00000228606.4:n.*76G>A | |
| ENST00000228606.8:c.*76G>A | ENSP00000228606.4:n.*76G>A | |
| ENST00000547344.5:n.1742G>A | ||
| NM_000785.3:c.*76G>A | NP_000776.1:n.*76G>A | |
| NM_000785.4:c.*76G>A MANE Select | NP_000776.1:n.*76G>A |