Linked Data
ClinVar Variation Id:
141079
dbSNP Id:
rs552303079
gnomAD v2:
2-47630258-G-A
gnomAD v3:
2-47403119-G-A
gnomAD v4:
2-47403119-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403119G>A , CM000664.2:g.47403119G>A | GRCh38 |
| NC_000002.11:g.47630258G>A , CM000664.1:g.47630258G>A | GRCh37 |
| NC_000002.10:g.47483762G>A | NCBI36 |
| NG_007110.2:g.4996G>A , LRG_218:g.4996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-87G>A | ENSP00000442697.1:n.-87G>A | |
| ENST00000644092.1:c.-73G>A | ENSP00000496351.1:n.-73G>A | |
| ENST00000645339.1:c.-73G>A | ENSP00000496441.1:n.-73G>A | |
| ENST00000645506.1:c.-73G>A | ENSP00000495455.1:n.-73G>A | |
| ENST00000646415.1:c.-73G>A | ENSP00000495543.1:n.-73G>A | |
| ENST00000233146.6:c.-73G>A | ENSP00000233146.2:n.-73G>A | |
| ENST00000454849.5:c.-87G>A | ENSP00000411482.1:n.-87G>A | |
| ENST00000543555.5:c.-87G>A | ENSP00000442697.1:n.-87G>A | |
| NM_000251.2:c.-73G>A , LRG_218t1:c.-73G>A | NP_000242.1:n.-73G>A | |
| NM_001258281.1:c.-87G>A | NP_001245210.1:n.-87G>A |