Linked Data
ClinVar Variation Id:
1757175
ClinVar RCV Id:
RCV002367360
dbSNP Id:
rs746702986
gnomAD v3:
2-47403122-G-A
gnomAD v4:
2-47403122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403122G>A , CM000664.2:g.47403122G>A | GRCh38 |
| NC_000002.11:g.47630261G>A , CM000664.1:g.47630261G>A | GRCh37 |
| NC_000002.10:g.47483765G>A | NCBI36 |
| NG_007110.2:g.4999G>A , LRG_218:g.4999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-84G>A | ENSP00000442697.1:n.-84G>A | |
| ENST00000644092.1:c.-70G>A | ENSP00000496351.1:n.-70G>A | |
| ENST00000645339.1:c.-70G>A | ENSP00000496441.1:n.-70G>A | |
| ENST00000645506.1:c.-70G>A | ENSP00000495455.1:n.-70G>A | |
| ENST00000646415.1:c.-70G>A | ENSP00000495543.1:n.-70G>A | |
| ENST00000233146.6:c.-70G>A | ENSP00000233146.2:n.-70G>A | |
| ENST00000454849.5:c.-84G>A | ENSP00000411482.1:n.-84G>A | |
| ENST00000543555.5:c.-84G>A | ENSP00000442697.1:n.-84G>A | |
| NM_000251.2:c.-70G>A , LRG_218t1:c.-70G>A | NP_000242.1:n.-70G>A | |
| NM_001258281.1:c.-84G>A | NP_001245210.1:n.-84G>A | |
| XM_005264332.2:c.-70G>A | XP_005264389.2:n.-70G>A | |
| XM_011532867.1:c.-70G>A | XP_011531169.1:n.-70G>A | |
| XR_939685.1:n.3G>A |