Linked Data
ClinVar Variation Id:
902160
ClinVar RCV Id:
RCV001148505
dbSNP Id:
rs1246606859
gnomAD v3:
4-185150235-G-A
gnomAD v4:
4-185150235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185150235G>A , CM000666.2:g.185150235G>A | GRCh38 |
| NC_000004.11:g.186071389G>A , CM000666.1:g.186071389G>A | GRCh37 |
| NC_000004.10:g.186308383G>A | NCBI36 |
| NG_013001.1:g.11973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.*3264G>A MANE Select | ENSP00000281456.5:n.*3264G>A | |
| ENST00000281456.10:c.*3264G>A | ENSP00000281456.5:n.*3264G>A | |
| NM_001151.3:c.*3264G>A | NP_001142.2:n.*3264G>A | |
| NM_001151.4:c.*3264G>A MANE Select | NP_001142.2:n.*3264G>A |