Linked Data
dbSNP Id:
rs763065365
gnomAD v3:
8-143818213-G-A
gnomAD v4:
8-143818213-G-A
MyVariant Identifiers:
chr8:g.143818213G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143818213G>A , CM000670.2:g.143818213G>A | GRCh38 |
| NC_000008.9:g.144972371G>A | NCBI36 |
| NG_030583.1:g.2167C>T | |
| NG_033879.1:g.16174C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1281C>T | ||
| ENST00000526151.6:n.2638C>T | ||
| ENST00000526459.6:c.529C>T | ENSP00000432610.2:p.Leu177= | |
| ENST00000527744.6:c.580C>T | ENSP00000436131.2:p.Leu194= | |
| ENST00000531951.6:c.454C>T | ENSP00000515500.1:p.Leu152= | |
| ENST00000532127.6:c.*428C>T | ENSP00000515484.1:n.*428C>T | |
| ENST00000533162.2:c.694C>T | ENSP00000433403.2:p.Leu232= | |
| ENST00000533362.2:c.658C>T | ENSP00000515502.1:p.Leu220= | |
| ENST00000703744.1:n.1294C>T | ||
| ENST00000703803.1:n.731C>T | ||
| ENST00000703846.1:c.454C>T | ENSP00000515498.1:p.Leu152= | |
| ENST00000703847.1:c.694C>T | ENSP00000515499.1:p.Leu232= | |
| ENST00000703848.1:n.614C>T | ||
| ENST00000703849.1:c.454C>T | ENSP00000515501.1:p.Leu152= | |
| ENST00000703850.1:c.658C>T | ENSP00000515503.1:p.Leu220= | |
| ENST00000703851.1:n.503C>T | ||
| ENST00000703852.1:c.*506C>T | ENSP00000515504.1:n.*506C>T | |
| ENST00000703853.1:n.497C>T | ||
| ENST00000703866.1:c.583C>T | ENSP00000515511.1:p.Leu195= | |
| ENST00000526683.6:c.583C>T MANE Select | ENSP00000434359.1:p.Leu195= | |
| ENST00000313352.11:c.403C>T | ENSP00000322016.7:p.Leu135= | |
| ENST00000349157.10:c.532C>T | ENSP00000322036.7:p.Leu178= | |
| ENST00000453551.6:c.454C>T | ENSP00000402953.2:p.Leu152= | |
| ENST00000456095.6:c.496C>T | ENSP00000395417.2:p.Leu166= | |
| ENST00000524570.5:n.1269C>T | ||
| ENST00000526459.5:c.529C>T | ENSP00000432610.1:p.Leu177= | |
| ENST00000526683.5:c.583C>T | ENSP00000434359.1:p.Leu195= | |
| ENST00000527197.5:c.445C>T | ENSP00000431960.1:p.Leu149= | |
| ENST00000527744.5:c.576C>T | ||
| ENST00000528320.5:n.595C>T | ||
| ENST00000528999.5:n.314C>T | ||
| ENST00000529693.1:n.664C>T | ||
| ENST00000529999.5:c.643C>T | ENSP00000434863.1:p.Leu215= | |
| ENST00000531897.5:c.643C>T | ENSP00000437309.1:p.Leu215= | |
| ENST00000531951.5:n.743C>T | ||
| ENST00000532884.1:c.177C>T | ||
| NM_001136033.2:c.454C>T | NP_001129505.1:p.Leu152= | |
| NM_001271096.1:c.529C>T | NP_001258025.1:p.Leu177= | |
| NM_001271097.1:c.445C>T | NP_001258026.1:p.Leu149= | |
| NM_001271098.1:c.580C>T | NP_001258027.1:p.Leu194= | |
| NM_001271099.1:c.496C>T | NP_001258028.1:p.Leu166= | |
| NM_001271100.1:c.403C>T | NP_001258029.1:p.Leu135= | |
| NM_014281.4:c.532C>T | NP_055096.2:p.Leu178= | |
| NM_078480.2:c.583C>T | NP_510965.1:p.Leu195= | |
| XM_011516929.1:c.694C>T | XP_011515231.1:p.Leu232= | |
| XM_011516930.1:c.643C>T | XP_011515232.1:p.Leu215= | |
| NM_001362895.1:c.694C>T | NP_001349824.1:p.Leu232= | |
| NM_001362896.1:c.694C>T | NP_001349825.1:p.Leu232= | |
| NM_001362897.1:c.643C>T | NP_001349826.1:p.Leu215= | |
| XM_017013234.1:c.694C>T | XP_016868723.1:p.Leu232= | |
| XM_017013235.1:c.658C>T | XP_016868724.1:p.Leu220= | |
| XM_017013236.1:c.643C>T | XP_016868725.1:p.Leu215= | |
| XM_017013239.1:c.454C>T | XP_016868728.1:p.Leu152= | |
| XM_017013240.1:c.403C>T | XP_016868729.1:p.Leu135= | |
| NM_001136033.3:c.454C>T | NP_001129505.1:p.Leu152= | |
| NM_001271096.2:c.529C>T | NP_001258025.1:p.Leu177= | |
| NM_001271097.2:c.445C>T | NP_001258026.1:p.Leu149= | |
| NM_001271098.2:c.580C>T | NP_001258027.1:p.Leu194= | |
| NM_001271099.2:c.496C>T | NP_001258028.1:p.Leu166= | |
| NM_001271100.2:c.403C>T | NP_001258029.1:p.Leu135= | |
| NM_001362895.2:c.694C>T | NP_001349824.1:p.Leu232= | |
| NM_001362896.2:c.694C>T | NP_001349825.1:p.Leu232= | |
| NM_001362897.2:c.643C>T | NP_001349826.1:p.Leu215= | |
| NM_014281.5:c.532C>T | NP_055096.2:p.Leu178= | |
| NM_078480.3:c.583C>T MANE Select | NP_510965.1:p.Leu195= |