Linked Data
ClinVar Variation Id:
293347
ClinVar RCV Id:
RCV000338524
dbSNP Id:
rs3935401
gnomAD v2:
1-161333558-A-G
gnomAD v3:
1-161363768-A-G
gnomAD v4:
1-161363768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161363768A>G , CM000663.2:g.161363768A>G | GRCh38 |
| NC_000001.10:g.161333558A>G , CM000663.1:g.161333558A>G | GRCh37 |
| NC_000001.9:g.159600182A>G | NCBI36 |
| NG_012767.1:g.54393A>G , LRG_317:g.54393A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367975.6:c.*1335A>G | ENSP00000356953.2:n.*1335A>G | |
| NM_001035511.1:c.*1228A>G | NP_001030588.1:n.*1228A>G | |
| NM_001035512.1:c.*1335A>G | NP_001030589.1:n.*1335A>G | |
| NM_001035513.1:c.*1335A>G | NP_001030590.1:n.*1335A>G | |
| NM_001278172.1:c.*1228A>G | NP_001265101.1:n.*1228A>G | |
| NM_003001.3:c.*1335A>G , LRG_317t1:c.*1335A>G | NP_002992.1:n.*1335A>G | |
| NR_103459.1:n.1902A>G | ||
| NM_001035511.2:c.*1228A>G | NP_001030588.1:n.*1228A>G | |
| NM_001035512.2:c.*1335A>G | NP_001030589.1:n.*1335A>G | |
| NM_001035513.2:c.*1335A>G | NP_001030590.1:n.*1335A>G | |
| NM_001278172.2:c.*1228A>G | NP_001265101.1:n.*1228A>G | |
| NR_103459.2:n.1897A>G |