Linked Data
ClinVar Variation Id:
1622308
ClinVar RCV Id:
RCV002094526
dbSNP Id:
rs970135337
gnomAD v2:
1-216040532-A-G
gnomAD v3:
1-215867190-A-G
gnomAD v4:
1-215867190-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867190A>G , CM000663.2:g.215867190A>G | GRCh38 |
| NC_000001.10:g.216040532A>G , CM000663.1:g.216040532A>G | GRCh37 |
| NC_000001.9:g.214107155A>G | NCBI36 |
| NG_009497.1:g.561207T>C | |
| NG_009497.2:g.561259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-20T>C MANE Select | ENSP00000305941.3:n.8682-20T>C | |
| ENST00000674083.1:c.8682-20T>C | ENSP00000501296.1:n.8682-20T>C | |
| ENST00000307340.7:c.8682-20T>C | ENSP00000305941.3:n.8682-20T>C | |
| NM_206933.2:c.8682-20T>C | NP_996816.2:n.8682-20T>C | |
| NM_206933.3:c.8682-20T>C | NP_996816.2:n.8682-20T>C | |
| NM_206933.4:c.8682-20T>C MANE Select | NP_996816.3:n.8682-20T>C |