Linked Data
dbSNP Id:
rs762329005
ExAC:
11:6340687 C / G
gnomAD v2:
11-6340687-C-G
gnomAD v4:
11-6319457-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319457C>G , CM000673.2:g.6319457C>G | GRCh38 |
| NC_000011.9:g.6340687C>G , CM000673.1:g.6340687C>G | GRCh37 |
| NC_000011.8:g.6297263C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.492G>C MANE Select | ENSP00000307292.3:p.Glu164Asp | |
| ENST00000303927.3:c.492G>C | ENSP00000307292.3:p.Glu164Asp | |
| ENST00000524852.1:n.278G>C | ||
| ENST00000530979.1:c.588G>C | ENSP00000432047.1:p.Glu196Asp | |
| ENST00000532354.1:n.514G>C | ||
| NM_145040.2:c.492G>C | NP_659477.2:p.Glu164Asp | |
| XR_930997.1:n.720+1237C>G | ||
| XR_001748106.1:n.68C>G | ||
| XR_242848.4:n.317C>G | ||
| NM_145040.3:c.492G>C MANE Select | NP_659477.2:p.Glu164Asp |