Linked Data
ClinVar Variation Id:
346477
dbSNP Id:
rs567814417
ExAC:
3:64139009 C / T
gnomAD v2:
3-64139009-C-T
gnomAD v3:
3-64153333-C-T
gnomAD v4:
3-64153333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64153333C>T , CM000665.2:g.64153333C>T | GRCh38 |
| NC_000003.11:g.64139009C>T , CM000665.1:g.64139009C>T | GRCh37 |
| NC_000003.10:g.64114049C>T | NCBI36 |
| NG_031930.1:g.77123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.804G>A | ENSP00000295902.7:p.Gly268= | |
| ENST00000564377.6:c.636G>A | ENSP00000455004.2:p.Gly212= | |
| ENST00000638394.2:c.636G>A MANE Select | ENSP00000492363.1:p.Gly212= | |
| ENST00000640095.1:n.1704G>A | ||
| ENST00000640303.1:n.1275G>A | ||
| ENST00000295902.10:c.636G>A | ENSP00000295902.6:p.Gly212= | |
| ENST00000564377.5:c.804G>A | ENSP00000455004.1:p.Gly268= | |
| NM_198859.3:c.636G>A | NP_942559.1:p.Gly212= | |
| XM_011533432.1:c.912G>A | XP_011531734.1:p.Gly304= | |
| XM_011533433.1:c.912G>A | XP_011531735.1:p.Gly304= | |
| XM_011533434.1:c.804G>A | XP_011531736.1:p.Gly268= | |
| XM_011533435.1:c.804G>A | XP_011531737.1:p.Gly268= | |
| XM_011533436.1:c.636G>A | XP_011531738.1:p.Gly212= | |
| XM_011533437.1:c.636G>A | XP_011531739.1:p.Gly212= | |
| XM_011533438.1:c.285G>A | XP_011531740.1:p.Gly95= | |
| XM_011533439.1:c.636G>A | XP_011531741.1:p.Gly212= | |
| XM_011533440.1:c.912G>A | XP_011531742.1:p.Gly304= | |
| XM_011533432.2:c.912G>A | XP_011531734.1:p.Gly304= | |
| XM_011533433.2:c.912G>A | XP_011531735.1:p.Gly304= | |
| XM_011533434.2:c.804G>A | XP_011531736.1:p.Gly268= | |
| XM_011533435.2:c.804G>A | XP_011531737.1:p.Gly268= | |
| XM_011533436.3:c.636G>A | XP_011531738.1:p.Gly212= | |
| XM_011533437.2:c.636G>A | XP_011531739.1:p.Gly212= | |
| XM_011533438.2:c.285G>A | XP_011531740.1:p.Gly95= | |
| XM_011533440.2:c.912G>A | XP_011531742.1:p.Gly304= | |
| XM_017005798.1:c.636G>A | XP_016861287.1:p.Gly212= | |
| XM_017005799.1:c.264G>A | XP_016861288.1:p.Gly88= | |
| NM_198859.4:c.636G>A MANE Select | NP_942559.1:p.Gly212= | |
| NM_001370528.1:c.636G>A | NP_001357457.1:p.Gly212= |