Linked Data
ClinVar Variation Id:
345280
ClinVar RCV Id:
RCV000312679
dbSNP Id:
rs886058509
gnomAD v2:
3-43763785-A-G
gnomAD v3:
3-43722293-A-G
gnomAD v4:
3-43722293-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43722293A>G , CM000665.2:g.43722293A>G | GRCh38 |
| NC_000003.11:g.43763785A>G , CM000665.1:g.43763785A>G | GRCh37 |
| NC_000003.10:g.43738789A>G | NCBI36 |
| NG_007090.3:g.36411A>G | |
| NG_007090.5:g.36424A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454293.2:c.*29+3732A>G | ENSP00000412014.2:n.*29+3732A>G | |
| ENST00000463153.2:c.306+3732A>G | ||
| ENST00000644371.2:c.*3761A>G MANE Select | ENSP00000495778.1:n.*3761A>G | |
| ENST00000649763.1:c.*29+3732A>G | ENSP00000497701.1:n.*29+3732A>G | |
| ENST00000463153.1:n.309+3732A>G | ||
| NM_016006.4:c.*3761A>G | NP_057090.2:n.*3761A>G | |
| XM_011533779.1:c.*3761A>G | XP_011532081.1:n.*3761A>G | |
| XM_011533780.1:c.*3787A>G | XP_011532082.1:n.*3787A>G | |
| XR_940447.1:n.4756A>G | ||
| NM_001355186.1:c.*29+3732A>G | NP_001342115.1:n.*29+3732A>G | |
| NM_001365649.1:c.*3761A>G | NP_001352578.1:n.*3761A>G | |
| NM_001365650.1:c.*3787A>G | NP_001352579.1:n.*3787A>G | |
| NM_016006.5:c.*3761A>G | NP_057090.2:n.*3761A>G | |
| NR_158560.1:n.4822A>G | ||
| NM_001355186.2:c.*29+3732A>G | NP_001342115.1:n.*29+3732A>G | |
| NM_016006.6:c.*3761A>G MANE Select | NP_057090.2:n.*3761A>G |