Linked Data
dbSNP Id:
rs140523064
ExAC:
11:6340694 A / C
gnomAD v2:
11-6340694-A-C
gnomAD v3:
11-6319464-A-C
gnomAD v4:
11-6319464-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319464A>C , CM000673.2:g.6319464A>C | GRCh38 |
| NC_000011.9:g.6340694A>C , CM000673.1:g.6340694A>C | GRCh37 |
| NC_000011.8:g.6297270A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.485T>G MANE Select | ENSP00000307292.3:p.Val162Gly | |
| ENST00000303927.3:c.485T>G | ENSP00000307292.3:p.Val162Gly | |
| ENST00000524852.1:n.271T>G | ||
| ENST00000530979.1:c.581T>G | ENSP00000432047.1:p.Val194Gly | |
| ENST00000532354.1:n.507T>G | ||
| NM_145040.2:c.485T>G | NP_659477.2:p.Val162Gly | |
| XR_930997.1:n.720+1244A>C | ||
| XR_001748106.1:n.75A>C | ||
| XR_242848.4:n.324A>C | ||
| NM_145040.3:c.485T>G MANE Select | NP_659477.2:p.Val162Gly |