Linked Data
ClinVar Variation Id:
193699
dbSNP Id:
rs201057526
ExAC:
7:77885777 G / A
gnomAD v2:
7-77885777-G-A
gnomAD v3:
7-78256460-G-A
gnomAD v4:
7-78256460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78256460G>A , CM000669.2:g.78256460G>A | GRCh38 |
| NC_000007.13:g.77885777G>A , CM000669.1:g.77885777G>A | GRCh37 |
| NC_000007.12:g.77723713G>A | NCBI36 |
| NG_011487.1:g.1202114C>T | |
| NG_011487.2:g.1202115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.1530C>T MANE Select | ENSP00000346151.4:p.Tyr510= | |
| ENST00000636039.1:c.600C>T | ENSP00000490259.1:p.Tyr200= | |
| ENST00000636178.1:c.600C>T | ENSP00000489709.1:p.Tyr200= | |
| ENST00000636717.1:c.1026C>T | ENSP00000490128.1:p.Tyr342= | |
| ENST00000637282.1:c.357C>T | ENSP00000490637.1:p.Tyr119= | |
| ENST00000637441.1:c.1530C>T | ENSP00000489633.1:p.Tyr510= | |
| ENST00000637486.1:c.1041C>T | ENSP00000490080.1:p.Tyr347= | |
| ENST00000354212.8:c.1530C>T | ENSP00000346151.4:p.Tyr510= | |
| ENST00000419488.5:c.1530C>T | ENSP00000405766.1:p.Tyr510= | |
| ENST00000519748.5:c.357C>T | ENSP00000486774.1:p.Tyr119= | |
| ENST00000520379.2:n.605C>T | ||
| ENST00000522391.3:c.1530C>T | ENSP00000428389.1:p.Tyr510= | |
| ENST00000535697.5:c.1116C>T | ENSP00000441603.3:p.Tyr372= | |
| ENST00000626691.2:c.1041C>T | ENSP00000486131.1:p.Tyr347= | |
| ENST00000628781.1:c.1041C>T | ENSP00000485970.1:p.Tyr347= | |
| ENST00000628980.2:c.1116C>T | ENSP00000487526.1:p.Tyr372= | |
| ENST00000629359.2:c.1041C>T | ENSP00000487448.1:p.Tyr347= | |
| ENST00000630991.2:c.861C>T | ENSP00000487435.1:p.Tyr287= | |
| NM_001301128.1:c.1530C>T | NP_001288057.1:p.Tyr510= | |
| NM_012301.3:c.1530C>T | NP_036433.2:p.Tyr510= | |
| XM_011516718.1:c.1530C>T | XP_011515020.1:p.Tyr510= | |
| XM_011516719.1:c.1170C>T | XP_011515021.1:p.Tyr390= | |
| XM_011516720.1:c.1170C>T | XP_011515022.1:p.Tyr390= | |
| XM_011516721.1:c.1041C>T | XP_011515023.1:p.Tyr347= | |
| XM_011516722.1:c.990C>T | XP_011515024.1:p.Tyr330= | |
| XM_011516723.1:c.1530C>T | XP_011515025.1:p.Tyr510= | |
| XM_011516724.1:c.1530C>T | XP_011515026.1:p.Tyr510= | |
| XM_011516725.1:c.1530C>T | XP_011515027.1:p.Tyr510= | |
| XM_011516726.1:c.486C>T | XP_011515028.1:p.Tyr162= | |
| XM_011516727.1:c.486C>T | XP_011515029.1:p.Tyr162= | |
| XM_011516728.1:c.357C>T | XP_011515030.1:p.Tyr119= | |
| XM_011516729.1:c.357C>T | XP_011515031.1:p.Tyr119= | |
| XM_011516718.2:c.1530C>T | XP_011515020.1:p.Tyr510= | |
| XM_011516719.3:c.1170C>T | XP_011515021.1:p.Tyr390= | |
| XM_011516720.3:c.1170C>T | XP_011515022.1:p.Tyr390= | |
| XM_011516726.3:c.486C>T | XP_011515028.1:p.Tyr162= | |
| XM_017012840.2:c.1659C>T | XP_016868329.1:p.Tyr553= | |
| XM_017012841.2:c.1656C>T | XP_016868330.1:p.Tyr552= | |
| XM_017012842.2:c.1659C>T | XP_016868331.1:p.Tyr553= | |
| XM_017012843.2:c.1659C>T | XP_016868332.1:p.Tyr553= | |
| XM_017012844.2:c.1659C>T | XP_016868333.1:p.Tyr553= | |
| XM_017012845.2:c.1530C>T | XP_016868334.1:p.Tyr510= | |
| XM_017012846.2:c.1530C>T | XP_016868335.1:p.Tyr510= | |
| XM_017012847.2:c.1170C>T | XP_016868336.1:p.Tyr390= | |
| XM_017012848.2:c.1041C>T | XP_016868337.1:p.Tyr347= | |
| XM_017012849.2:c.1041C>T | XP_016868338.1:p.Tyr347= | |
| XM_017012850.2:c.1659C>T | XP_016868339.1:p.Tyr553= | |
| XM_017012851.2:c.1659C>T | XP_016868340.1:p.Tyr553= | |
| XM_017012852.2:c.1659C>T | XP_016868341.1:p.Tyr553= | |
| XM_024447009.1:c.1170C>T | XP_024302777.1:p.Tyr390= | |
| NM_012301.4:c.1530C>T MANE Select | NP_036433.2:p.Tyr510= | |
| NM_001301128.2:c.1530C>T | NP_001288057.1:p.Tyr510= |