Linked Data
ClinVar Variation Id:
1794821
ClinVar RCV Id:
RCV002453202
dbSNP Id:
rs1466373860
gnomAD v4:
2-47403082-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403082G>A , CM000664.2:g.47403082G>A | GRCh38 |
| NC_000002.11:g.47630221G>A , CM000664.1:g.47630221G>A | GRCh37 |
| NC_000002.10:g.47483725G>A | NCBI36 |
| NG_007110.2:g.4959G>A , LRG_218:g.4959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-124G>A | ENSP00000442697.1:n.-124G>A | |
| ENST00000233146.6:c.-110G>A | ENSP00000233146.2:n.-110G>A | |
| ENST00000454849.5:c.-124G>A | ENSP00000411482.1:n.-124G>A | |
| ENST00000543555.5:c.-124G>A | ENSP00000442697.1:n.-124G>A | |
| NM_000251.2:c.-110G>A , LRG_218t1:c.-110G>A | NP_000242.1:n.-110G>A | |
| NM_001258281.1:c.-124G>A | NP_001245210.1:n.-124G>A |