Identifiers and link-outs to other resources
ClinVar Variation Id:
381058
dbSNP Id:
rs769520392
ExAC:
12:52100309 A / G
gnomAD:
12:52100309 A / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51706525A>G , CM000674.2:g.51706525A>G | GRCh38 |
| NC_000012.11:g.52100309A>G , CM000674.1:g.52100309A>G | GRCh37 |
| NC_000012.10:g.50386576A>G | NCBI36 |
| NG_021180.2:g.120290A>G | |
| NG_021180.3:g.121568A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001177984.2:c.1445A>G VV | NP_001171455.1:p.Lys482Arg | |
| NM_014191.3:c.1445A>G VV | NP_055006.1:p.Lys482Arg | |
| XM_006719556.2:c.1445A>G | XP_006719619.1:p.Lys482Arg | |
| XM_011538650.1:c.1445A>G | XP_011536952.1:p.Lys482Arg | |
| XM_011538651.1:c.1445A>G | XP_011536953.1:p.Lys482Arg | |
| NM_001330260.1:c.1445A>G VV | NP_001317189.1:p.Lys482Arg | |
| XM_006719556.4:c.1445A>G | XP_006719619.1:p.Lys482Arg | |
| XM_011538651.3:c.1445A>G | XP_011536953.1:p.Lys482Arg | |
| XM_017019794.2:c.1445A>G | XP_016875283.1:p.Lys482Arg | |
| XM_017019795.2:c.1445A>G | XP_016875284.1:p.Lys482Arg | |
| XM_017019796.1:c.1445A>G | XP_016875285.1:p.Lys482Arg | |
| NM_001330260.2:c.1445A>G VV MANE Preferred | NP_001317189.1:p.Lys482Arg | |
| NM_001369788.1:c.1445A>G VV | NP_001356717.1:p.Lys482Arg | |
| NM_014191.4:c.1445A>G VV | NP_055006.1:p.Lys482Arg | |
| NM_001177984.3:c.1445A>G VV | NP_001171455.1:p.Lys482Arg | |
| ENST00000354534.10:c.1445A>G | ENSP00000346534.4:p.Lys482Arg | |
| ENST00000355133.7:n.1445A>G | ENSP00000347255.4:p.Lys482Arg | |
| ENST00000545061.5:c.1445A>G | ENSP00000440360.1:p.Lys482Arg | |
| ENST00000550891.4:n.1573A>G | ||
| ENST00000551216.2:n.995A>G | ENSP00000447567.2:p.Lys332Arg | |
| ENST00000599343.5:n.1445A>G | ENSP00000476447.3:p.Lys482Arg | |
| ENST00000627620.2:n.1445A>G | ENSP00000487583.1:p.Lys482Arg |