Linked Data
ClinVar Variation Id:
374297
dbSNP Id:
rs1057518681
MyVariant Identifiers:
chr8:g.143816821T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143816821T>C , CM000670.2:g.143816821T>C | GRCh38 |
| NC_000008.9:g.144970979T>C | NCBI36 |
| NG_030583.1:g.3559A>G | |
| NG_033879.1:g.17566A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524570.6:n.2079-2A>G | ||
| ENST00000526151.6:n.3436-2A>G | ||
| ENST00000526459.6:c.1327-2A>G | ENSP00000432610.2:n.1327-2A>G | |
| ENST00000527744.6:c.1378-2A>G | ENSP00000436131.2:n.1378-2A>G | |
| ENST00000531951.6:c.1252-2A>G | ENSP00000515500.1:n.1252-2A>G | |
| ENST00000532127.6:c.*1226-2A>G | ENSP00000515484.1:n.*1226-2A>G | |
| ENST00000533162.2:c.1492-2A>G | ENSP00000433403.2:n.1492-2A>G | |
| ENST00000533362.2:c.1456-2A>G | ENSP00000515502.1:n.1456-2A>G | |
| ENST00000703744.1:n.2092-2A>G | ||
| ENST00000703803.1:n.1646-2A>G | ||
| ENST00000703846.1:c.1252-2A>G | ENSP00000515498.1:n.1252-2A>G | |
| ENST00000703847.1:c.1492-2A>G | ENSP00000515499.1:n.1492-2A>G | |
| ENST00000703848.1:n.1412-2A>G | ||
| ENST00000703849.1:c.1252-2A>G | ENSP00000515501.1:n.1252-2A>G | |
| ENST00000703850.1:c.1456-2A>G | ENSP00000515503.1:n.1456-2A>G | |
| ENST00000703866.1:c.1381-2A>G | ENSP00000515511.1:n.1381-2A>G | |
| ENST00000526683.6:c.1381-2A>G MANE Select | ENSP00000434359.1:n.1381-2A>G | |
| ENST00000313352.11:c.1201-2A>G | ENSP00000322016.7:n.1201-2A>G | |
| ENST00000349157.10:c.1330-2A>G | ENSP00000322036.7:n.1330-2A>G | |
| ENST00000453551.6:c.1252-2A>G | ENSP00000402953.2:n.1252-2A>G | |
| ENST00000456095.6:c.1294-2A>G | ENSP00000395417.2:n.1294-2A>G | |
| ENST00000526683.5:c.1381-2A>G | ENSP00000434359.1:n.1381-2A>G | |
| ENST00000527197.5:c.1243-2A>G | ENSP00000431960.1:n.1243-2A>G | |
| NM_001136033.2:c.1252-2A>G | NP_001129505.1:n.1252-2A>G | |
| NM_001271096.1:c.1327-2A>G | NP_001258025.1:n.1327-2A>G | |
| NM_001271097.1:c.1243-2A>G | NP_001258026.1:n.1243-2A>G | |
| NM_001271098.1:c.1378-2A>G | NP_001258027.1:n.1378-2A>G | |
| NM_001271099.1:c.1294-2A>G | NP_001258028.1:n.1294-2A>G | |
| NM_001271100.1:c.1201-2A>G | NP_001258029.1:n.1201-2A>G | |
| NM_014281.4:c.1330-2A>G | NP_055096.2:n.1330-2A>G | |
| NM_078480.2:c.1381-2A>G | NP_510965.1:n.1381-2A>G | |
| XM_011516929.1:c.1492-2A>G | XP_011515231.1:n.1492-2A>G | |
| XM_011516930.1:c.1441-2A>G | XP_011515232.1:n.1441-2A>G | |
| NM_001362895.1:c.1492-2A>G | NP_001349824.1:n.1492-2A>G | |
| NM_001362896.1:c.1492-2A>G | NP_001349825.1:n.1492-2A>G | |
| NM_001362897.1:c.1441-2A>G | NP_001349826.1:n.1441-2A>G | |
| XM_017013234.1:c.1492-2A>G | XP_016868723.1:n.1492-2A>G | |
| XM_017013235.1:c.1456-2A>G | XP_016868724.1:n.1456-2A>G | |
| XM_017013236.1:c.1441-2A>G | XP_016868725.1:n.1441-2A>G | |
| XM_017013239.1:c.1252-2A>G | XP_016868728.1:n.1252-2A>G | |
| XM_017013240.1:c.1201-2A>G | XP_016868729.1:n.1201-2A>G | |
| NM_001136033.3:c.1252-2A>G | NP_001129505.1:n.1252-2A>G | |
| NM_001271096.2:c.1327-2A>G | NP_001258025.1:n.1327-2A>G | |
| NM_001271097.2:c.1243-2A>G | NP_001258026.1:n.1243-2A>G | |
| NM_001271098.2:c.1378-2A>G | NP_001258027.1:n.1378-2A>G | |
| NM_001271099.2:c.1294-2A>G | NP_001258028.1:n.1294-2A>G | |
| NM_001271100.2:c.1201-2A>G | NP_001258029.1:n.1201-2A>G | |
| NM_001362895.2:c.1492-2A>G | NP_001349824.1:n.1492-2A>G | |
| NM_001362896.2:c.1492-2A>G | NP_001349825.1:n.1492-2A>G | |
| NM_001362897.2:c.1441-2A>G | NP_001349826.1:n.1441-2A>G | |
| NM_014281.5:c.1330-2A>G | NP_055096.2:n.1330-2A>G | |
| NM_078480.3:c.1381-2A>G MANE Select | NP_510965.1:n.1381-2A>G |