Linked Data
ClinVar Variation Id:
361180
dbSNP Id:
rs886062571
gnomAD v2:
8-103236321-T-C
gnomAD v3:
8-102224093-T-C
gnomAD v4:
8-102224093-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224093T>C , CM000670.2:g.102224093T>C | GRCh38 |
| NC_000008.10:g.103236321T>C , CM000670.1:g.103236321T>C | GRCh37 |
| NC_000008.9:g.103305497T>C | NCBI36 |
| NG_016617.1:g.20026A>G , LRG_788:g.20026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.503A>G MANE Select | ENSP00000251810.3:p.Lys168Arg | |
| ENST00000251810.7:c.503A>G | ENSP00000251810.3:p.Lys168Arg | |
| ENST00000395912.6:c.347A>G | ENSP00000379248.2:p.Lys116Arg | |
| ENST00000519317.5:c.49-9935A>G | ENSP00000430641.1:n.49-9935A>G | |
| ENST00000519962.5:c.48+14734A>G | ENSP00000429140.1:n.48+14734A>G | |
| ENST00000522368.5:c.672A>G | ||
| ENST00000522394.1:c.122+8138A>G | ENSP00000429578.1:n.122+8138A>G | |
| ENST00000621845.1:c.341A>G | ENSP00000484318.1:p.Lys114Arg | |
| NM_001172477.1:c.719A>G , LRG_788t1:c.719A>G | NP_001165948.1:p.Lys240Arg | |
| NM_001172478.1:c.347A>G | NP_001165949.1:p.Lys116Arg | |
| NM_015713.4:c.503A>G , LRG_788t2:c.503A>G | NP_056528.2:p.Lys168Arg | |
| NM_001172478.2:c.347A>G | NP_001165949.1:p.Lys116Arg | |
| NM_015713.5:c.503A>G MANE Select | NP_056528.2:p.Lys168Arg |