Linked Data
ClinVar Variation Id:
4246
ClinVar RCV Id:
RCV000004468
dbSNP Id:
rs119473032
gnomAD v4:
8-20253576-T-C
PubMed:
PMID:10097140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20253576T>C , CM000670.2:g.20253576T>C | GRCh38 |
| NC_000008.10:g.20111087T>C , CM000670.1:g.20111087T>C | GRCh37 |
| NC_000008.9:g.20155367T>C | NCBI36 |
| NG_015834.2:g.6717A>G | |
| NG_015834.3:g.55406A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265801.6:c.355A>G | ENSP00000265801.6:p.Lys119Glu | |
| ENST00000381569.5:c.355A>G MANE Select | ENSP00000370981.1:p.Lys119Glu | |
| ENST00000522290.5:c.355A>G | ENSP00000429263.1:p.Lys119Glu | |
| ENST00000616228.1:c.157+1449A>G | ENSP00000479534.1:n.157+1449A>G | |
| NM_021020.3:c.355A>G | NP_066300.1:p.Lys119Glu | |
| XM_005273394.3:c.355A>G | XP_005273451.1:p.Lys119Glu | |
| XM_011544383.1:c.355A>G | XP_011542685.1:p.Lys119Glu | |
| XM_011544384.1:c.355A>G | XP_011542686.1:p.Lys119Glu | |
| XM_011544385.1:c.355A>G | XP_011542687.1:p.Lys119Glu | |
| XM_011544386.1:c.355A>G | XP_011542688.1:p.Lys119Glu | |
| XM_011544387.1:c.355A>G | XP_011542689.1:p.Lys119Glu | |
| NM_001362884.1:c.355A>G | NP_001349813.1:p.Lys119Glu | |
| NM_021020.4:c.355A>G | NP_066300.1:p.Lys119Glu | |
| XM_011544384.2:c.355A>G | XP_011542686.1:p.Lys119Glu | |
| XM_011544385.2:c.355A>G | XP_011542687.1:p.Lys119Glu | |
| XM_011544386.2:c.355A>G | XP_011542688.1:p.Lys119Glu | |
| NM_021020.5:c.355A>G MANE Select | NP_066300.1:p.Lys119Glu | |
| NM_001362884.2:c.355A>G | NP_001349813.1:p.Lys119Glu |