Linked Data
ClinVar Variation Id:
329242
dbSNP Id:
rs762786941
gnomAD v2:
19-39998839-A-G
gnomAD v3:
19-39508199-A-G
gnomAD v4:
19-39508199-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39508199A>G , CM000681.2:g.39508199A>G | GRCh38 |
| NC_000019.9:g.39998839A>G , CM000681.1:g.39998839A>G | GRCh37 |
| NC_000019.8:g.44690679A>G | NCBI36 |
| NG_008256.1:g.14283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1759-53A>G MANE Select | ENSP00000348810.4:n.1759-53A>G | |
| ENST00000205143.4:c.*186A>G | ENSP00000205143.3:n.*186A>G | |
| ENST00000356433.9:c.1759-53A>G | ENSP00000348810.4:n.1759-53A>G | |
| NM_016941.3:c.*186A>G | NP_058637.1:n.*186A>G | |
| NM_203486.2:c.1759-53A>G | NP_982353.1:n.1759-53A>G | |
| NM_016941.4:c.*186A>G | NP_058637.1:n.*186A>G | |
| NM_203486.3:c.1759-53A>G MANE Select | NP_982353.1:n.1759-53A>G |