Linked Data
ClinVar Variation Id:
537386
ClinVar RCV Id:
RCV000646223
dbSNP Id:
rs759264099
ExAC:
6:1611036 A / G
gnomAD v2:
6-1611036-A-G
gnomAD v3:
6-1610801-A-G
gnomAD v4:
6-1610801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610801A>G , CM000668.2:g.1610801A>G | GRCh38 |
| NC_000006.11:g.1611036A>G , CM000668.1:g.1611036A>G | GRCh37 |
| NC_000006.10:g.1556035A>G | NCBI36 |
| NG_009368.1:g.5356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.356A>G MANE Select | ENSP00000493906.1:p.Lys119Arg | |
| ENST00000380874.3:c.356A>G | ENSP00000370256.2:p.Lys119Arg | |
| NM_001453.2:c.356A>G | NP_001444.2:p.Lys119Arg | |
| NM_001453.3:c.356A>G MANE Select | NP_001444.2:p.Lys119Arg |