Linked Data
ClinVar Variation Id:
321832
dbSNP Id:
rs7214082
gnomAD v2:
17-14111176-C-G
gnomAD v3:
17-14207859-C-G
gnomAD v4:
17-14207859-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14207859C>G , CM000679.2:g.14207859C>G | GRCh38 |
| NC_000017.10:g.14111176C>G , CM000679.1:g.14111176C>G | GRCh37 |
| NC_000017.9:g.14051901C>G | NCBI36 |
| NG_008034.1:g.143458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.*646C>G MANE Select | ENSP00000261643.3:n.*646C>G | |
| ENST00000664217.1:c.*55+591C>G | ENSP00000499396.1:n.*55+591C>G | |
| ENST00000670279.1:c.929-1650C>G | ENSP00000499450.1:n.929-1650C>G | |
| ENST00000261643.7:c.*646C>G | ENSP00000261643.3:n.*646C>G | |
| NM_001303.3:c.*646C>G | NP_001294.2:n.*646C>G | |
| XM_011523658.1:c.*646C>G | XP_011521960.1:n.*646C>G | |
| XR_933974.1:n.1032-1650C>G | ||
| NM_001303.4:c.*646C>G MANE Select | NP_001294.2:n.*646C>G |