Linked Data
ClinVar Variation Id:
2460349
ClinVar RCV Id:
RCV004253258
dbSNP Id:
rs140123921
ExAC:
8:117783858 A / G
gnomAD v2:
8-117783858-A-G
gnomAD v3:
8-116771619-A-G
gnomAD v4:
8-116771619-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116771619A>G , CM000670.2:g.116771619A>G | GRCh38 |
| NC_000008.10:g.117783858A>G , CM000670.1:g.117783858A>G | GRCh37 |
| NC_000008.9:g.117853039A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309822.7:c.527A>G MANE Select | ENSP00000308332.2:p.Lys176Arg | |
| ENST00000309822.6:c.527A>G | ENSP00000308332.2:p.Lys176Arg | |
| ENST00000517814.1:c.363+1253A>G | ENSP00000429962.1:n.363+1253A>G | |
| ENST00000517820.1:c.188+4828A>G | ENSP00000427767.1:n.188+4828A>G | |
| ENST00000520733.5:c.45+1253A>G | ENSP00000429384.1:n.45+1253A>G | |
| ENST00000521071.1:c.188+4828A>G | ENSP00000430029.1:n.188+4828A>G | |
| ENST00000521703.5:c.188+4828A>G | ENSP00000428455.1:n.188+4828A>G | |
| ENST00000521974.1:n.433A>G | ||
| ENST00000524128.1:c.45+1253A>G | ENSP00000430309.1:n.45+1253A>G | |
| NM_032334.2:c.527A>G | NP_115710.2:p.Lys176Arg | |
| XM_005251080.2:c.363+1253A>G | XP_005251137.2:n.363+1253A>G | |
| XR_928356.1:n.411+1253A>G | ||
| XR_928357.1:n.411+1253A>G | ||
| NM_032334.3:c.527A>G MANE Select | NP_115710.2:p.Lys176Arg |