Linked Data
ClinVar Variation Id:
213419
dbSNP Id:
rs141707850
ExAC:
5:127626535 T / C
gnomAD v2:
5-127626535-T-C
gnomAD v3:
5-128290843-T-C
gnomAD v4:
5-128290843-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128290843T>C , CM000667.2:g.128290843T>C | GRCh38 |
| NC_000005.9:g.127626535T>C , CM000667.1:g.127626535T>C | GRCh37 |
| NC_000005.8:g.127654434T>C | NCBI36 |
| NG_008750.1:g.252201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3118A>G | ||
| ENST00000703785.1:n.3037A>G | ||
| ENST00000262464.9:c.6334A>G MANE Select | ENSP00000262464.4:p.Lys2112Glu | |
| ENST00000262464.8:c.6334A>G | ENSP00000262464.4:p.Lys2112Glu | |
| ENST00000508053.5:c.6334A>G | ENSP00000424571.1:p.Lys2112Glu | |
| ENST00000619499.4:c.6331A>G | ENSP00000482132.1:p.Lys2111Glu | |
| NM_001999.3:c.6334A>G | NP_001990.2:p.Lys2112Glu | |
| XM_017009228.2:c.6181A>G | XP_016864717.1:p.Lys2061Glu | |
| NM_001999.4:c.6334A>G MANE Select | NP_001990.2:p.Lys2112Glu |