Linked Data
ClinVar Variation Id:
947690
ClinVar RCV Id:
RCV001218812
dbSNP Id:
rs149092063
ExAC:
4:4864539 A / G
gnomAD v2:
4-4864539-A-G
gnomAD v3:
4-4862812-A-G
gnomAD v4:
4-4862812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862812A>G , CM000666.2:g.4862812A>G | GRCh38 |
| NC_000004.11:g.4864539A>G , CM000666.1:g.4864539A>G | GRCh37 |
| NC_000004.10:g.4915440A>G | NCBI36 |
| NG_008121.1:g.8148A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.581A>G MANE Select | ENSP00000372170.4:p.Lys194Arg | |
| ENST00000382723.4:c.581A>G | ENSP00000372170.4:p.Lys194Arg | |
| ENST00000468421.1:n.293A>G | ||
| NM_002448.3:c.581A>G MANE Select | NP_002439.2:p.Lys194Arg |