Linked Data
ClinVar Variation Id:
1783064
ClinVar RCV Id:
RCV002413191
dbSNP Id:
rs786202882
gnomAD v4:
2-47403086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403086G>A , CM000664.2:g.47403086G>A | GRCh38 |
| NC_000002.11:g.47630225G>A , CM000664.1:g.47630225G>A | GRCh37 |
| NC_000002.10:g.47483729G>A | NCBI36 |
| NG_007110.2:g.4963G>A , LRG_218:g.4963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-120G>A | ENSP00000442697.1:n.-120G>A | |
| ENST00000233146.6:c.-106G>A | ENSP00000233146.2:n.-106G>A | |
| ENST00000454849.5:c.-120G>A | ENSP00000411482.1:n.-120G>A | |
| ENST00000543555.5:c.-120G>A | ENSP00000442697.1:n.-120G>A | |
| NM_000251.2:c.-106G>A , LRG_218t1:c.-106G>A | NP_000242.1:n.-106G>A | |
| NM_001258281.1:c.-120G>A | NP_001245210.1:n.-120G>A |