Linked Data
ClinVar Variation Id:
3152091
ClinVar RCV Id:
RCV004441026
dbSNP Id:
rs774883241
ExAC:
20:18470604 T / C
gnomAD v2:
20-18470604-T-C
gnomAD v3:
20-18489960-T-C
gnomAD v4:
20-18489960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18489960T>C , CM000682.2:g.18489960T>C | GRCh38 |
| NC_000020.10:g.18470604T>C , CM000682.1:g.18470604T>C | GRCh37 |
| NC_000020.9:g.18418604T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337227.9:c.365A>G MANE Select | ENSP00000336866.4:p.Lys122Arg | |
| ENST00000337227.8:c.365A>G | ENSP00000336866.4:p.Lys122Arg | |
| ENST00000491835.1:n.329A>G | ||
| ENST00000493184.5:n.249A>G | ||
| ENST00000622282.1:c.365A>G | ENSP00000482005.1:p.Lys122Arg | |
| NM_006606.2:c.365A>G | NP_006597.2:p.Lys122Arg | |
| XM_005260652.1:c.191A>G | XP_005260709.1:p.Lys64Arg | |
| XM_005260652.2:c.191A>G | XP_005260709.1:p.Lys64Arg | |
| NM_006606.3:c.365A>G MANE Select | NP_006597.2:p.Lys122Arg |