Linked Data
dbSNP Id:
rs764109468
gnomAD v3:
8-143818220-C-G
gnomAD v4:
8-143818220-C-G
MyVariant Identifiers:
chr8:g.143818220C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143818220C>G , CM000670.2:g.143818220C>G | GRCh38 |
| NC_000008.9:g.144972378C>G | NCBI36 |
| NG_030583.1:g.2160G>C | |
| NG_033879.1:g.16167G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1274G>C | ||
| ENST00000526151.6:n.2631G>C | ||
| ENST00000526459.6:c.522G>C | ENSP00000432610.2:p.Ser174= | |
| ENST00000527744.6:c.573G>C | ENSP00000436131.2:p.Ser191= | |
| ENST00000531951.6:c.447G>C | ENSP00000515500.1:p.Ser149= | |
| ENST00000532127.6:c.*421G>C | ENSP00000515484.1:n.*421G>C | |
| ENST00000533162.2:c.687G>C | ENSP00000433403.2:p.Ser229= | |
| ENST00000533362.2:c.651G>C | ENSP00000515502.1:p.Ser217= | |
| ENST00000703744.1:n.1287G>C | ||
| ENST00000703803.1:n.724G>C | ||
| ENST00000703846.1:c.447G>C | ENSP00000515498.1:p.Ser149= | |
| ENST00000703847.1:c.687G>C | ENSP00000515499.1:p.Ser229= | |
| ENST00000703848.1:n.607G>C | ||
| ENST00000703849.1:c.447G>C | ENSP00000515501.1:p.Ser149= | |
| ENST00000703850.1:c.651G>C | ENSP00000515503.1:p.Ser217= | |
| ENST00000703851.1:n.496G>C | ||
| ENST00000703852.1:c.*499G>C | ENSP00000515504.1:n.*499G>C | |
| ENST00000703853.1:n.490G>C | ||
| ENST00000703866.1:c.576G>C | ENSP00000515511.1:p.Ser192= | |
| ENST00000526683.6:c.576G>C MANE Select | ENSP00000434359.1:p.Ser192= | |
| ENST00000313352.11:c.396G>C | ENSP00000322016.7:p.Ser132= | |
| ENST00000349157.10:c.525G>C | ENSP00000322036.7:p.Ser175= | |
| ENST00000453551.6:c.447G>C | ENSP00000402953.2:p.Ser149= | |
| ENST00000456095.6:c.489G>C | ENSP00000395417.2:p.Ser163= | |
| ENST00000524570.5:n.1262G>C | ||
| ENST00000526459.5:c.522G>C | ENSP00000432610.1:p.Ser174= | |
| ENST00000526683.5:c.576G>C | ENSP00000434359.1:p.Ser192= | |
| ENST00000527197.5:c.438G>C | ENSP00000431960.1:p.Ser146= | |
| ENST00000527744.5:c.569G>C | ||
| ENST00000528320.5:n.588G>C | ||
| ENST00000528999.5:n.307G>C | ||
| ENST00000529693.1:n.657G>C | ||
| ENST00000529999.5:c.636G>C | ENSP00000434863.1:p.Ser212= | |
| ENST00000531897.5:c.636G>C | ENSP00000437309.1:p.Ser212= | |
| ENST00000531951.5:n.736G>C | ||
| ENST00000532884.1:c.170G>C | ||
| NM_001136033.2:c.447G>C | NP_001129505.1:p.Ser149= | |
| NM_001271096.1:c.522G>C | NP_001258025.1:p.Ser174= | |
| NM_001271097.1:c.438G>C | NP_001258026.1:p.Ser146= | |
| NM_001271098.1:c.573G>C | NP_001258027.1:p.Ser191= | |
| NM_001271099.1:c.489G>C | NP_001258028.1:p.Ser163= | |
| NM_001271100.1:c.396G>C | NP_001258029.1:p.Ser132= | |
| NM_014281.4:c.525G>C | NP_055096.2:p.Ser175= | |
| NM_078480.2:c.576G>C | NP_510965.1:p.Ser192= | |
| XM_011516929.1:c.687G>C | XP_011515231.1:p.Ser229= | |
| XM_011516930.1:c.636G>C | XP_011515232.1:p.Ser212= | |
| NM_001362895.1:c.687G>C | NP_001349824.1:p.Ser229= | |
| NM_001362896.1:c.687G>C | NP_001349825.1:p.Ser229= | |
| NM_001362897.1:c.636G>C | NP_001349826.1:p.Ser212= | |
| XM_017013234.1:c.687G>C | XP_016868723.1:p.Ser229= | |
| XM_017013235.1:c.651G>C | XP_016868724.1:p.Ser217= | |
| XM_017013236.1:c.636G>C | XP_016868725.1:p.Ser212= | |
| XM_017013239.1:c.447G>C | XP_016868728.1:p.Ser149= | |
| XM_017013240.1:c.396G>C | XP_016868729.1:p.Ser132= | |
| NM_001136033.3:c.447G>C | NP_001129505.1:p.Ser149= | |
| NM_001271096.2:c.522G>C | NP_001258025.1:p.Ser174= | |
| NM_001271097.2:c.438G>C | NP_001258026.1:p.Ser146= | |
| NM_001271098.2:c.573G>C | NP_001258027.1:p.Ser191= | |
| NM_001271099.2:c.489G>C | NP_001258028.1:p.Ser163= | |
| NM_001271100.2:c.396G>C | NP_001258029.1:p.Ser132= | |
| NM_001362895.2:c.687G>C | NP_001349824.1:p.Ser229= | |
| NM_001362896.2:c.687G>C | NP_001349825.1:p.Ser229= | |
| NM_001362897.2:c.636G>C | NP_001349826.1:p.Ser212= | |
| NM_014281.5:c.525G>C | NP_055096.2:p.Ser175= | |
| NM_078480.3:c.576G>C MANE Select | NP_510965.1:p.Ser192= |