Linked Data
dbSNP Id:
rs771105522
ExAC:
1:201286782 C / G
gnomAD v2:
1-201286782-C-G
gnomAD v3:
1-201317654-C-G
gnomAD v4:
1-201317654-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317654C>G , CM000663.2:g.201317654C>G | GRCh38 |
| NC_000001.10:g.201286782C>G , CM000663.1:g.201286782C>G | GRCh37 |
| NC_000001.9:g.199553405C>G | NCBI36 |
| NG_023337.1:g.39203C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.929C>G MANE Select | ENSP00000356293.4:p.Ala310Gly | |
| ENST00000263946.7:c.929C>G | ENSP00000263946.3:p.Ala310Gly | |
| ENST00000352845.3:c.929C>G | ENSP00000295597.3:p.Ala310Gly | |
| ENST00000367324.7:c.929C>G | ENSP00000356293.3:p.Ala310Gly | |
| ENST00000475988.1:n.271C>G | ||
| ENST00000622031.4:c.926C>G | ENSP00000482213.1:p.Ala309Gly | |
| NM_000299.3:c.929C>G | NP_000290.2:p.Ala310Gly | |
| NM_001005337.2:c.929C>G | NP_001005337.1:p.Ala310Gly | |
| NM_001005337.3:c.929C>G MANE Select | NP_001005337.1:p.Ala310Gly | |
| NM_000299.4:c.929C>G | NP_000290.2:p.Ala310Gly |