Linked Data
ClinVar Variation Id:
261767
dbSNP Id:
rs145926679
ExAC:
2:166775810 T / C
gnomAD v2:
2-166775810-T-C
gnomAD v3:
2-165919300-T-C
gnomAD v4:
2-165919300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165919300T>C , CM000664.2:g.165919300T>C | GRCh38 |
| NC_000002.11:g.166775810T>C , CM000664.1:g.166775810T>C | GRCh37 |
| NC_000002.10:g.166484056T>C | NCBI36 |
| NG_030345.1:g.39539A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.1650A>G MANE Select | ENSP00000243344.7:p.Glu550= | |
| ENST00000652557.1:c.1650A>G | ENSP00000498617.1:p.Glu550= | |
| ENST00000679356.1:c.1650A>G | ENSP00000506245.1:p.Glu550= | |
| ENST00000679671.1:n.1763A>G | ||
| ENST00000679676.1:c.1539A>G | ENSP00000505492.1:p.Glu513= | |
| ENST00000679799.1:c.1650A>G | ENSP00000505208.1:p.Glu550= | |
| ENST00000679840.1:c.1650A>G | ENSP00000505248.1:p.Glu550= | |
| ENST00000679931.1:c.*692A>G | ENSP00000505632.1:n.*692A>G | |
| ENST00000679967.1:c.1650A>G | ENSP00000506607.1:p.Glu550= | |
| ENST00000680327.1:c.*692A>G | ENSP00000506639.1:n.*692A>G | |
| ENST00000680448.1:c.1650A>G | ENSP00000505921.1:p.Glu550= | |
| ENST00000680657.1:n.1761A>G | ||
| ENST00000680690.1:c.*902A>G | ENSP00000506121.1:n.*902A>G | |
| ENST00000680888.1:c.1650A>G | ENSP00000506276.1:p.Glu550= | |
| ENST00000680947.1:c.*922A>G | ENSP00000506496.1:n.*922A>G | |
| ENST00000681024.1:c.1650A>G | ENSP00000506449.1:p.Glu550= | |
| ENST00000681083.1:c.*1384A>G | ENSP00000506095.1:n.*1384A>G | |
| ENST00000681167.1:n.1524A>G | ||
| ENST00000681483.1:c.1650A>G | ENSP00000505499.1:p.Glu550= | |
| ENST00000681502.1:c.*1074A>G | ENSP00000505644.1:n.*1074A>G | |
| ENST00000681606.1:c.1650A>G | ENSP00000505354.1:p.Glu550= | |
| ENST00000681819.1:c.1650A>G | ENSP00000505673.1:p.Glu550= | |
| ENST00000681952.1:c.1650A>G | ENSP00000506400.1:p.Glu550= | |
| ENST00000243344.7:c.1650A>G | ENSP00000243344.7:p.Glu550= | |
| NM_024753.4:c.1650A>G | NP_079029.3:p.Glu550= | |
| XM_006712761.1:c.1650A>G | XP_006712824.1:p.Glu550= | |
| XM_011511870.1:c.1083A>G | XP_011510172.1:p.Glu361= | |
| XM_011511871.1:c.900A>G | XP_011510173.1:p.Glu300= | |
| XM_011511872.1:c.1650A>G | XP_011510174.1:p.Glu550= | |
| XM_011511871.3:c.900A>G | XP_011510173.1:p.Glu300= | |
| XM_011511872.2:c.1650A>G | XP_011510174.1:p.Glu550= | |
| XM_017004967.1:c.1650A>G | XP_016860456.1:p.Glu550= | |
| XM_017004968.2:c.996A>G | XP_016860457.1:p.Glu332= | |
| XM_017004969.1:c.651A>G | XP_016860458.1:p.Glu217= | |
| NM_024753.5:c.1650A>G MANE Select | NP_079029.3:p.Glu550= |