Linked Data
ClinVar Variation Id:
425567
dbSNP Id:
rs1085307135
MyVariant Identifiers:
chr8:g.143818255C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143818255C>T , CM000670.2:g.143818255C>T | GRCh38 |
| NC_000008.9:g.144972413C>T | NCBI36 |
| NG_030583.1:g.2125G>A | |
| NG_033879.1:g.16132G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1239G>A | ||
| ENST00000526151.6:n.2596G>A | ||
| ENST00000526459.6:c.487G>A | ENSP00000432610.2:p.Glu163Lys | |
| ENST00000527744.6:c.538G>A | ENSP00000436131.2:p.Glu180Lys | |
| ENST00000531951.6:c.412G>A | ENSP00000515500.1:p.Glu138Lys | |
| ENST00000532127.6:c.*386G>A | ENSP00000515484.1:n.*386G>A | |
| ENST00000533162.2:c.652G>A | ENSP00000433403.2:p.Glu218Lys | |
| ENST00000533362.2:c.616G>A | ENSP00000515502.1:p.Glu206Lys | |
| ENST00000703744.1:n.1252G>A | ||
| ENST00000703803.1:n.689G>A | ||
| ENST00000703846.1:c.412G>A | ENSP00000515498.1:p.Glu138Lys | |
| ENST00000703847.1:c.652G>A | ENSP00000515499.1:p.Glu218Lys | |
| ENST00000703848.1:n.572G>A | ||
| ENST00000703849.1:c.412G>A | ENSP00000515501.1:p.Glu138Lys | |
| ENST00000703850.1:c.616G>A | ENSP00000515503.1:p.Glu206Lys | |
| ENST00000703851.1:n.461G>A | ||
| ENST00000703852.1:c.*464G>A | ENSP00000515504.1:n.*464G>A | |
| ENST00000703853.1:n.455G>A | ||
| ENST00000703866.1:c.541G>A | ENSP00000515511.1:p.Glu181Lys | |
| ENST00000526683.6:c.541G>A MANE Select | ENSP00000434359.1:p.Glu181Lys | |
| ENST00000313352.11:c.361G>A | ENSP00000322016.7:p.Glu121Lys | |
| ENST00000349157.10:c.490G>A | ENSP00000322036.7:p.Glu164Lys | |
| ENST00000453551.6:c.412G>A | ENSP00000402953.2:p.Glu138Lys | |
| ENST00000456095.6:c.454G>A | ENSP00000395417.2:p.Glu152Lys | |
| ENST00000524570.5:n.1227G>A | ||
| ENST00000526459.5:c.487G>A | ENSP00000432610.1:p.Glu163Lys | |
| ENST00000526683.5:c.541G>A | ENSP00000434359.1:p.Glu181Lys | |
| ENST00000527197.5:c.403G>A | ENSP00000431960.1:p.Glu135Lys | |
| ENST00000527744.5:c.534G>A | ||
| ENST00000528320.5:n.553G>A | ||
| ENST00000528999.5:n.272G>A | ||
| ENST00000529693.1:n.622G>A | ||
| ENST00000529999.5:c.601G>A | ENSP00000434863.1:p.Glu201Lys | |
| ENST00000531897.5:c.601G>A | ENSP00000437309.1:p.Glu201Lys | |
| ENST00000531951.5:n.701G>A | ||
| ENST00000532884.1:c.135G>A | ||
| ENST00000533162.1:c.652G>A | ENSP00000433403.1:p.Glu218Lys | |
| NM_001136033.2:c.412G>A | NP_001129505.1:p.Glu138Lys | |
| NM_001271096.1:c.487G>A | NP_001258025.1:p.Glu163Lys | |
| NM_001271097.1:c.403G>A | NP_001258026.1:p.Glu135Lys | |
| NM_001271098.1:c.538G>A | NP_001258027.1:p.Glu180Lys | |
| NM_001271099.1:c.454G>A | NP_001258028.1:p.Glu152Lys | |
| NM_001271100.1:c.361G>A | NP_001258029.1:p.Glu121Lys | |
| NM_014281.4:c.490G>A | NP_055096.2:p.Glu164Lys | |
| NM_078480.2:c.541G>A | NP_510965.1:p.Glu181Lys | |
| XM_011516929.1:c.652G>A | XP_011515231.1:p.Glu218Lys | |
| XM_011516930.1:c.601G>A | XP_011515232.1:p.Glu201Lys | |
| NM_001362895.1:c.652G>A | NP_001349824.1:p.Glu218Lys | |
| NM_001362896.1:c.652G>A | NP_001349825.1:p.Glu218Lys | |
| NM_001362897.1:c.601G>A | NP_001349826.1:p.Glu201Lys | |
| XM_017013234.1:c.652G>A | XP_016868723.1:p.Glu218Lys | |
| XM_017013235.1:c.616G>A | XP_016868724.1:p.Glu206Lys | |
| XM_017013236.1:c.601G>A | XP_016868725.1:p.Glu201Lys | |
| XM_017013239.1:c.412G>A | XP_016868728.1:p.Glu138Lys | |
| XM_017013240.1:c.361G>A | XP_016868729.1:p.Glu121Lys | |
| NM_001136033.3:c.412G>A | NP_001129505.1:p.Glu138Lys | |
| NM_001271096.2:c.487G>A | NP_001258025.1:p.Glu163Lys | |
| NM_001271097.2:c.403G>A | NP_001258026.1:p.Glu135Lys | |
| NM_001271098.2:c.538G>A | NP_001258027.1:p.Glu180Lys | |
| NM_001271099.2:c.454G>A | NP_001258028.1:p.Glu152Lys | |
| NM_001271100.2:c.361G>A | NP_001258029.1:p.Glu121Lys | |
| NM_001362895.2:c.652G>A | NP_001349824.1:p.Glu218Lys | |
| NM_001362896.2:c.652G>A | NP_001349825.1:p.Glu218Lys | |
| NM_001362897.2:c.601G>A | NP_001349826.1:p.Glu201Lys | |
| NM_014281.5:c.490G>A | NP_055096.2:p.Glu164Lys | |
| NM_078480.3:c.541G>A MANE Select | NP_510965.1:p.Glu181Lys |