Linked Data
ClinVar Variation Id:
1209279
ClinVar RCV Id:
RCV001577892
dbSNP Id:
rs138682307
gnomAD v2:
1-216243848-G-A
gnomAD v3:
1-216070506-G-A
gnomAD v4:
1-216070506-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070506G>A , CM000663.2:g.216070506G>A | GRCh38 |
| NC_000001.10:g.216243848G>A , CM000663.1:g.216243848G>A | GRCh37 |
| NC_000001.9:g.214310471G>A | NCBI36 |
| NG_009497.1:g.357891C>T | |
| NG_009497.2:g.357943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5858-214C>T MANE Select | ENSP00000305941.3:n.5858-214C>T | |
| ENST00000674083.1:c.5858-214C>T | ENSP00000501296.1:n.5858-214C>T | |
| ENST00000307340.7:c.5858-214C>T | ENSP00000305941.3:n.5858-214C>T | |
| NM_206933.2:c.5858-214C>T | NP_996816.2:n.5858-214C>T | |
| NM_206933.3:c.5858-214C>T | NP_996816.2:n.5858-214C>T | |
| NM_206933.4:c.5858-214C>T MANE Select | NP_996816.3:n.5858-214C>T |