Linked Data
ClinVar Variation Id:
411622
ClinVar RCV Id:
RCV002230185
dbSNP Id:
rs756944246
ExAC:
10:88651985 A / G
gnomAD v2:
10-88651985-A-G
gnomAD v4:
10-86892228-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86892228A>G , CM000672.2:g.86892228A>G | GRCh38 |
| NC_000010.10:g.88651985A>G , CM000672.1:g.88651985A>G | GRCh37 |
| NC_000010.9:g.88641965A>G | NCBI36 |
| NG_009362.1:g.140590A>G , LRG_298:g.140590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.332A>G | ENSP00000483569.2:p.Lys111Arg | |
| ENST00000635816.2:c.332A>G | ENSP00000489707.1:p.Lys111Arg | |
| ENST00000636056.2:c.332A>G | ENSP00000490273.1:p.Lys111Arg | |
| ENST00000372037.8:c.332A>G MANE Select | ENSP00000361107.2:p.Lys111Arg | |
| ENST00000635816.1:c.332A>G | ENSP00000489707.1:p.Lys111Arg | |
| ENST00000636056.1:c.332A>G | ENSP00000490273.1:p.Lys111Arg | |
| ENST00000638429.1:c.332A>G | ENSP00000492290.1:p.Lys111Arg | |
| ENST00000372037.7:c.332A>G | ENSP00000361107.1:p.Lys111Arg | |
| NM_004329.2:c.332A>G , LRG_298t1:c.332A>G | NP_004320.2:p.Lys111Arg | |
| XM_011540103.1:c.332A>G | XP_011538405.1:p.Lys111Arg | |
| XM_011540104.1:c.332A>G | XP_011538406.1:p.Lys111Arg | |
| XM_011540103.2:c.332A>G | XP_011538405.1:p.Lys111Arg | |
| XM_011540104.2:c.332A>G | XP_011538406.1:p.Lys111Arg | |
| NM_004329.3:c.332A>G MANE Select | NP_004320.2:p.Lys111Arg |