Linked Data
ClinVar Variation Id:
307790
ClinVar RCV Id:
RCV000318780
dbSNP Id:
rs571862339
gnomAD v2:
12-15134779-A-G
gnomAD v3:
12-14981845-A-G
gnomAD v4:
12-14981845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14981845A>G , CM000674.2:g.14981845A>G | GRCh38 |
| NC_000012.11:g.15134779A>G , CM000674.1:g.15134779A>G | GRCh37 |
| NC_000012.10:g.15026046A>G | NCBI36 |
| NG_016859.1:g.13824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.*369A>G MANE Select | ENSP00000266395.2:n.*369A>G | |
| ENST00000266395.2:c.*369A>G | ENSP00000266395.2:n.*369A>G | |
| NM_006205.2:c.*369A>G | NP_006196.1:n.*369A>G | |
| XR_931376.1:n.175+7642T>C | ||
| XM_017019431.2:c.*369A>G | XP_016874920.1:n.*369A>G | |
| XR_931376.2:n.389+7642T>C | ||
| NM_006205.3:c.*369A>G MANE Select | NP_006196.1:n.*369A>G |