Linked Data
ClinVar Variation Id:
881084
ClinVar RCV Id:
RCV001109832
dbSNP Id:
rs940651669
gnomAD v2:
12-109994932-G-C
gnomAD v3:
12-109557127-G-C
gnomAD v4:
12-109557127-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557127G>C , CM000674.2:g.109557127G>C | GRCh38 |
| NC_000012.11:g.109994932G>C , CM000674.1:g.109994932G>C | GRCh37 |
| NC_000012.10:g.108479315G>C | NCBI36 |
| NG_007096.1:g.21371C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.654C>G MANE Select | ENSP00000445920.1:p.Asp218Glu | |
| ENST00000537496.5:c.*219C>G | ENSP00000444793.1:n.*219C>G | |
| ENST00000540016.5:c.498C>G | ENSP00000474582.1:p.Asp166Glu | |
| ENST00000541763.6:c.879C>G | ENSP00000474981.1:n.879C>G | |
| ENST00000544051.5:c.*535C>G | ENSP00000438079.1:n.*535C>G | |
| ENST00000545712.6:c.654C>G | ENSP00000445920.1:p.Asp218Glu | |
| NM_052845.3:c.654C>G | NP_443077.1:p.Asp218Glu | |
| NR_038118.1:n.814C>G | ||
| XM_011538266.1:c.*1C>G | XP_011536568.1:n.*1C>G | |
| XM_011538267.1:c.*1C>G | XP_011536569.1:n.*1C>G | |
| XM_011538268.1:c.381C>G | XP_011536570.1:p.Asp127Glu | |
| XM_011538269.1:c.378C>G | XP_011536571.1:p.Asp126Glu | |
| XM_011538267.3:c.*1C>G | XP_011536569.1:n.*1C>G | |
| XM_011538268.2:c.381C>G | XP_011536570.1:p.Asp127Glu | |
| XM_011538269.2:c.378C>G | XP_011536571.1:p.Asp126Glu | |
| NM_052845.4:c.654C>G MANE Select | NP_443077.1:p.Asp218Glu | |
| NR_038118.2:n.765C>G |