Linked Data
ClinVar Variation Id:
525346
ClinVar RCV Id:
RCV000629400
dbSNP Id:
rs1554019966
gnomAD v4:
5-55232365-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232365T>C , CM000667.2:g.55232365T>C | GRCh38 |
| NC_000005.9:g.54528193T>C , CM000667.1:g.54528193T>C | GRCh37 |
| NC_000005.8:g.54563950T>C | NCBI36 |
| NG_034201.1:g.6353A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.563A>G MANE Select | ENSP00000282572.4:p.Lys188Arg | |
| ENST00000282572.4:c.563A>G | ENSP00000282572.4:p.Lys188Arg | |
| ENST00000501463.2:c.*543A>G | ENSP00000422485.1:n.*543A>G | |
| NM_021147.4:c.563A>G | NP_066970.3:p.Lys188Arg | |
| NR_125346.1:n.1133A>G | ||
| NR_125347.1:n.762A>G | ||
| NR_125348.1:n.627A>G | ||
| NM_021147.5:c.563A>G MANE Select | NP_066970.3:p.Lys188Arg | |
| NR_125346.2:n.1024A>G | ||
| NR_125347.2:n.653A>G |