Linked Data
ClinVar Variation Id:
837230
ClinVar RCV Id:
RCV001038515
dbSNP Id:
rs369138501
ExAC:
8:87683223 T / C
gnomAD v2:
8-87683223-T-C
gnomAD v4:
8-86670995-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670995T>C , CM000670.2:g.86670995T>C | GRCh38 |
| NC_000008.10:g.87683223T>C , CM000670.1:g.87683223T>C | GRCh37 |
| NC_000008.9:g.87752339T>C | NCBI36 |
| NG_016980.1:g.77681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.442A>G MANE Select | ENSP00000316605.5:p.Lys148Glu | |
| ENST00000680314.1:n.203A>G | ||
| ENST00000681746.1:c.442A>G | ENSP00000505959.1:p.Lys148Glu | |
| ENST00000320005.5:c.442A>G | ENSP00000316605.5:p.Lys148Glu | |
| NM_019098.4:c.442A>G | NP_061971.3:p.Lys148Glu | |
| XM_011517138.1:c.28A>G | XP_011515440.1:p.Lys10Glu | |
| XM_011517138.2:c.28A>G | XP_011515440.1:p.Lys10Glu | |
| NM_019098.5:c.442A>G MANE Select | NP_061971.3:p.Lys148Glu |