Linked Data
ClinVar Variation Id:
330751
dbSNP Id:
rs886054757
gnomAD v2:
2-112732901-C-G
gnomAD v3:
2-111975324-C-G
gnomAD v4:
2-111975324-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111975324C>G , CM000664.2:g.111975324C>G | GRCh38 |
| NC_000002.11:g.112732901C>G , CM000664.1:g.112732901C>G | GRCh37 |
| NC_000002.10:g.112449372C>G | NCBI36 |
| NG_011607.1:g.81711C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.996C>G MANE Select | ENSP00000295408.4:p.Val332= | |
| ENST00000295408.8:c.996C>G | ENSP00000295408.4:p.Val332= | |
| ENST00000409780.5:c.468C>G | ENSP00000387277.1:p.Val156= | |
| ENST00000421804.6:c.996C>G | ENSP00000389152.2:p.Val332= | |
| ENST00000439966.5:c.*469C>G | ENSP00000402129.1:n.*469C>G | |
| ENST00000616902.4:c.-220C>G | ENSP00000482824.1:n.-220C>G | |
| NM_006343.2:c.996C>G | NP_006334.2:p.Val332= | |
| XM_005263565.3:c.996C>G | XP_005263622.1:p.Val332= | |
| XM_005263568.3:c.996C>G | XP_005263625.1:p.Val332= | |
| XM_011510490.1:c.807C>G | XP_011508792.1:p.Val269= | |
| XM_005263565.4:c.996C>G | XP_005263622.1:p.Val332= | |
| XM_005263568.4:c.996C>G | XP_005263625.1:p.Val332= | |
| XM_011510490.3:c.807C>G | XP_011508792.1:p.Val269= | |
| XM_017003164.1:c.807C>G | XP_016858653.1:p.Val269= | |
| XM_017003165.2:c.-272C>G | XP_016858654.1:n.-272C>G | |
| NM_006343.3:c.996C>G MANE Select | NP_006334.2:p.Val332= |