Linked Data
ClinVar Variation Id:
1920652
ClinVar RCV Id:
RCV002621130
dbSNP Id:
rs2117551551
gnomAD v4:
7-130400047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130400047T>C , CM000669.2:g.130400047T>C | GRCh38 |
| NC_000007.13:g.130039888T>C , CM000669.1:g.130039888T>C | GRCh37 |
| NC_000007.12:g.129827124T>C | NCBI36 |
| NG_032164.1:g.46164A>G | |
| NG_032164.2:g.46164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.965A>G MANE Select | ENSP00000223208.4:p.Asp322Gly | |
| ENST00000343969.10:c.766+651A>G | ENSP00000342738.6:n.766+651A>G | |
| ENST00000480206.2:c.*478A>G | ENSP00000502099.1:n.*478A>G | |
| ENST00000484549.6:c.*1137A>G | ENSP00000419078.2:n.*1137A>G | |
| ENST00000492389.6:c.777+660A>G | ENSP00000419192.2:n.777+660A>G | |
| ENST00000541543.6:c.956A>G | ENSP00000445888.2:p.Asp319Gly | |
| ENST00000674539.1:c.423-1008A>G | ENSP00000502834.1:n.423-1008A>G | |
| ENST00000674630.1:c.*511A>G | ENSP00000502521.1:n.*511A>G | |
| ENST00000675138.1:c.1010A>G | ENSP00000501597.1:p.Asp337Gly | |
| ENST00000675168.1:c.917A>G | ENSP00000501563.1:p.Asp306Gly | |
| ENST00000675328.1:n.775A>G | ||
| ENST00000675542.1:n.930A>G | ||
| ENST00000675563.1:c.356A>G | ENSP00000502483.1:p.Asp119Gly | |
| ENST00000675596.1:c.757+660A>G | ENSP00000501735.1:n.757+660A>G | |
| ENST00000675649.1:c.782A>G | ENSP00000502385.1:p.Asp261Gly | |
| ENST00000675721.1:c.*908A>G | ENSP00000502026.1:n.*908A>G | |
| ENST00000675803.1:c.926A>G | ENSP00000502477.1:p.Asp309Gly | |
| ENST00000675813.1:c.*869A>G | ENSP00000502785.1:n.*869A>G | |
| ENST00000675935.1:c.956A>G | ENSP00000501731.1:p.Asp319Gly | |
| ENST00000675962.1:c.709+660A>G | ENSP00000502478.1:n.709+660A>G | |
| ENST00000676115.1:c.*886A>G | ENSP00000502631.1:n.*886A>G | |
| ENST00000676243.1:c.974A>G | ENSP00000501717.1:p.Asp325Gly | |
| ENST00000676312.1:c.926A>G | ENSP00000502312.1:p.Asp309Gly | |
| ENST00000223208.9:c.965A>G | ENSP00000223208.4:p.Asp322Gly | |
| ENST00000343969.9:c.757+660A>G | ENSP00000342738.5:n.757+660A>G | |
| ENST00000484549.5:c.*511A>G | ENSP00000419078.1:n.*511A>G | |
| ENST00000485736.5:n.648A>G | ||
| ENST00000541543.5:c.709+660A>G | ENSP00000445888.1:n.709+660A>G | |
| ENST00000603513.1:n.1163A>G | ||
| NM_001257158.1:c.757+660A>G | NP_001244087.1:n.757+660A>G | |
| NM_001257159.1:c.709+660A>G | NP_001244088.1:n.709+660A>G | |
| NM_018718.2:c.965A>G | NP_061188.1:p.Asp322Gly | |
| NR_046443.1:n.1133A>G | ||
| XM_011516708.1:c.1010A>G | XP_011515010.1:p.Asp337Gly | |
| XM_011516709.1:c.860A>G | XP_011515011.1:p.Asp287Gly | |
| XM_011516710.1:c.860A>G | XP_011515012.1:p.Asp287Gly | |
| XM_011516711.1:c.860A>G | XP_011515013.1:p.Asp287Gly | |
| XM_011516712.1:c.802+660A>G | XP_011515014.1:n.802+660A>G | |
| XM_011516709.3:c.860A>G | XP_011515011.1:p.Asp287Gly | |
| XM_011516710.3:c.860A>G | XP_011515012.1:p.Asp287Gly | |
| XM_024447004.1:c.926A>G | XP_024302772.1:p.Asp309Gly | |
| NM_018718.3:c.965A>G MANE Select | NP_061188.1:p.Asp322Gly | |
| NM_001257158.2:c.757+660A>G | NP_001244087.1:n.757+660A>G | |
| NR_046443.2:n.939A>G | ||
| NM_001257159.2:c.709+660A>G | NP_001244088.1:n.709+660A>G |