Linked Data
ClinVar Variation Id:
142876
dbSNP Id:
rs587782786
gnomAD v2:
2-47630215-G-T
gnomAD v3:
2-47403076-G-T
gnomAD v4:
2-47403076-G-T
PubMed:
PMID:20223835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403076G>T , CM000664.2:g.47403076G>T | GRCh38 |
| NC_000002.11:g.47630215G>T , CM000664.1:g.47630215G>T | GRCh37 |
| NC_000002.10:g.47483719G>T | NCBI36 |
| NG_007110.2:g.4953G>T , LRG_218:g.4953G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543555.6:c.-130G>T | ENSP00000442697.1:n.-130G>T | |
| ENST00000233146.6:c.-116G>T | ENSP00000233146.2:n.-116G>T | |
| ENST00000454849.5:c.-130G>T | ENSP00000411482.1:n.-130G>T | |
| ENST00000543555.5:c.-130G>T | ENSP00000442697.1:n.-130G>T | |
| NM_000251.2:c.-116G>T , LRG_218t1:c.-116G>T | NP_000242.1:n.-116G>T | |
| NM_001258281.1:c.-130G>T | NP_001245210.1:n.-130G>T |