Linked Data
dbSNP Id:
rs185910877
ExAC:
2:234183334 C / G
gnomAD v2:
2-234183334-C-G
gnomAD v3:
2-233274688-C-G
gnomAD v4:
2-233274688-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274688C>G , CM000664.2:g.233274688C>G | GRCh38 |
| NC_000002.11:g.234183334C>G , CM000664.1:g.234183334C>G | GRCh37 |
| NC_000002.10:g.233848073C>G | NCBI36 |
| NG_023038.1:g.28118C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.864C>G MANE Select | ENSP00000375872.4:p.Val288= | |
| ENST00000347464.9:c.375C>G | ENSP00000318259.6:p.Val125= | |
| ENST00000373525.9:c.432C>G | ENSP00000362625.5:p.Val144= | |
| ENST00000392017.8:c.864C>G | ENSP00000375872.4:p.Val288= | |
| ENST00000392018.1:c.915C>G | ENSP00000375873.1:p.Val305= | |
| ENST00000392020.8:c.807C>G | ENSP00000375875.4:p.Val269= | |
| ENST00000392021.7:c.*745C>G | ENSP00000375876.3:n.*745C>G | |
| ENST00000419681.5:c.375C>G | ENSP00000398773.1:p.Val125= | |
| ENST00000444735.5:c.483C>G | ENSP00000409215.1:p.Val161= | |
| ENST00000474148.5:n.1659C>G | ||
| ENST00000479942.5:n.1010C>G | ||
| ENST00000492298.5:n.385C>G | ||
| ENST00000498620.5:n.371C>G | ||
| NM_001190266.1:c.612C>G | NP_001177195.1:p.Val204= | |
| NM_001190267.1:c.516C>G | NP_001177196.1:p.Val172= | |
| NM_017974.3:c.807C>G | NP_060444.3:p.Val269= | |
| NM_030803.6:c.864C>G | NP_110430.5:p.Val288= | |
| NM_198890.2:c.375C>G | NP_942593.2:p.Val125= | |
| XM_005246082.1:c.915C>G | XP_005246139.1:p.Val305= | |
| XM_005246084.1:c.483C>G | XP_005246141.1:p.Val161= | |
| XM_005246086.1:c.432C>G | XP_005246143.1:p.Val144= | |
| XM_006712608.1:c.663C>G | XP_006712671.1:p.Val221= | |
| XR_241242.1:n.1109C>G | ||
| NM_001363742.1:c.915C>G | NP_001350671.1:p.Val305= | |
| XM_005246084.2:c.483C>G | XP_005246141.1:p.Val161= | |
| XM_005246086.2:c.432C>G | XP_005246143.1:p.Val144= | |
| XM_006712608.3:c.663C>G | XP_006712671.1:p.Val221= | |
| XR_001738801.2:n.1045C>G | ||
| XR_241242.3:n.1096C>G | ||
| NM_030803.7:c.864C>G MANE Select | NP_110430.5:p.Val288= | |
| NM_001190266.2:c.612C>G | NP_001177195.1:p.Val204= | |
| NM_001190267.2:c.516C>G | NP_001177196.1:p.Val172= | |
| NM_001363742.2:c.915C>G | NP_001350671.1:p.Val305= | |
| NM_017974.4:c.807C>G | NP_060444.3:p.Val269= | |
| NM_198890.3:c.375C>G | NP_942593.2:p.Val125= |