Linked Data
ClinVar Variation Id:
425570
ClinVar RCV Id:
RCV000488437
dbSNP Id:
rs1085307138
MyVariant Identifiers:
chr8:g.143817591C>T (hg38)
PubMed:
PMID:28327570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143817591C>T , CM000670.2:g.143817591C>T | GRCh38 |
| NC_000008.9:g.144971749C>T | NCBI36 |
| NG_030583.1:g.2789G>A | |
| NG_033879.1:g.16796G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.1706+1G>A | ||
| ENST00000526151.6:n.3063+1G>A | ||
| ENST00000526459.6:c.954+1G>A | ENSP00000432610.2:n.954+1G>A | |
| ENST00000527744.6:c.1005+1G>A | ENSP00000436131.2:n.1005+1G>A | |
| ENST00000531951.6:c.879+1G>A | ENSP00000515500.1:n.879+1G>A | |
| ENST00000532127.6:c.*853+1G>A | ENSP00000515484.1:n.*853+1G>A | |
| ENST00000533162.2:c.1119+1G>A | ENSP00000433403.2:n.1119+1G>A | |
| ENST00000533362.2:c.1083+1G>A | ENSP00000515502.1:n.1083+1G>A | |
| ENST00000703744.1:n.1719+1G>A | ||
| ENST00000703803.1:n.1273+1G>A | ||
| ENST00000703846.1:c.879+1G>A | ENSP00000515498.1:n.879+1G>A | |
| ENST00000703847.1:c.1119+1G>A | ENSP00000515499.1:n.1119+1G>A | |
| ENST00000703848.1:n.1039+1G>A | ||
| ENST00000703849.1:c.879+1G>A | ENSP00000515501.1:n.879+1G>A | |
| ENST00000703850.1:c.1083+1G>A | ENSP00000515503.1:n.1083+1G>A | |
| ENST00000703851.1:n.928+1G>A | ||
| ENST00000703866.1:c.1008+1G>A | ENSP00000515511.1:n.1008+1G>A | |
| ENST00000526683.6:c.1008+1G>A MANE Select | ENSP00000434359.1:n.1008+1G>A | |
| ENST00000313352.11:c.828+1G>A | ENSP00000322016.7:n.828+1G>A | |
| ENST00000349157.10:c.957+1G>A | ENSP00000322036.7:n.957+1G>A | |
| ENST00000453551.6:c.879+1G>A | ENSP00000402953.2:n.879+1G>A | |
| ENST00000456095.6:c.921+1G>A | ENSP00000395417.2:n.921+1G>A | |
| ENST00000524570.5:n.1694+1G>A | ||
| ENST00000526459.5:c.955G>A | ENSP00000432610.1:p.Val319Met | |
| ENST00000526683.5:c.1008+1G>A | ENSP00000434359.1:n.1008+1G>A | |
| ENST00000527197.5:c.870+1G>A | ENSP00000431960.1:n.870+1G>A | |
| ENST00000527744.5:c.1002G>A | ||
| ENST00000532884.1:c.617+1G>A | ||
| NM_001136033.2:c.879+1G>A | NP_001129505.1:n.879+1G>A | |
| NM_001271096.1:c.954+1G>A | NP_001258025.1:n.954+1G>A | |
| NM_001271097.1:c.870+1G>A | NP_001258026.1:n.870+1G>A | |
| NM_001271098.1:c.1005+1G>A | NP_001258027.1:n.1005+1G>A | |
| NM_001271099.1:c.921+1G>A | NP_001258028.1:n.921+1G>A | |
| NM_001271100.1:c.828+1G>A | NP_001258029.1:n.828+1G>A | |
| NM_014281.4:c.957+1G>A | NP_055096.2:n.957+1G>A | |
| NM_078480.2:c.1008+1G>A | NP_510965.1:n.1008+1G>A | |
| XM_011516929.1:c.1119+1G>A | XP_011515231.1:n.1119+1G>A | |
| XM_011516930.1:c.1068+1G>A | XP_011515232.1:n.1068+1G>A | |
| NM_001362895.1:c.1119+1G>A | NP_001349824.1:n.1119+1G>A | |
| NM_001362896.1:c.1119+1G>A | NP_001349825.1:n.1119+1G>A | |
| NM_001362897.1:c.1068+1G>A | NP_001349826.1:n.1068+1G>A | |
| XM_017013234.1:c.1119+1G>A | XP_016868723.1:n.1119+1G>A | |
| XM_017013235.1:c.1083+1G>A | XP_016868724.1:n.1083+1G>A | |
| XM_017013236.1:c.1068+1G>A | XP_016868725.1:n.1068+1G>A | |
| XM_017013239.1:c.879+1G>A | XP_016868728.1:n.879+1G>A | |
| XM_017013240.1:c.828+1G>A | XP_016868729.1:n.828+1G>A | |
| NM_001136033.3:c.879+1G>A | NP_001129505.1:n.879+1G>A | |
| NM_001271096.2:c.954+1G>A | NP_001258025.1:n.954+1G>A | |
| NM_001271097.2:c.870+1G>A | NP_001258026.1:n.870+1G>A | |
| NM_001271098.2:c.1005+1G>A | NP_001258027.1:n.1005+1G>A | |
| NM_001271099.2:c.921+1G>A | NP_001258028.1:n.921+1G>A | |
| NM_001271100.2:c.828+1G>A | NP_001258029.1:n.828+1G>A | |
| NM_001362895.2:c.1119+1G>A | NP_001349824.1:n.1119+1G>A | |
| NM_001362896.2:c.1119+1G>A | NP_001349825.1:n.1119+1G>A | |
| NM_001362897.2:c.1068+1G>A | NP_001349826.1:n.1068+1G>A | |
| NM_014281.5:c.957+1G>A | NP_055096.2:n.957+1G>A | |
| NM_078480.3:c.1008+1G>A MANE Select | NP_510965.1:n.1008+1G>A |