Linked Data
ClinVar Variation Id:
203439
ClinVar RCV Id:
RCV000185599
dbSNP Id:
rs767898276
ExAC:
12:64879798 G / A
gnomAD v2:
12-64879798-G-A
gnomAD v4:
12-64486018-G-A
PubMed:
PMID:25803835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64486018G>A , CM000674.2:g.64486018G>A | GRCh38 |
| NC_000012.11:g.64879798G>A , CM000674.1:g.64879798G>A | GRCh37 |
| NC_000012.10:g.63166065G>A | NCBI36 |
| NG_046906.1:g.38959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331710.10:c.1340+1G>A MANE Select | ENSP00000329967.5:n.1340+1G>A | |
| ENST00000650708.1:c.1216+1G>A | ||
| ENST00000650762.1:c.1184+1G>A | ENSP00000498758.1:n.1184+1G>A | |
| ENST00000650786.1:c.*1485+1G>A | ENSP00000498280.1:n.*1485+1G>A | |
| ENST00000650790.1:c.1340+1G>A | ENSP00000498995.1:n.1340+1G>A | |
| ENST00000650997.1:c.1340+1G>A | ENSP00000498341.1:n.1340+1G>A | |
| ENST00000651014.1:c.1184+1G>A | ENSP00000498885.1:n.1184+1G>A | |
| ENST00000651262.1:c.1340+1G>A | ENSP00000498461.1:n.1340+1G>A | |
| ENST00000651878.1:c.*824+1G>A | ENSP00000499077.1:n.*824+1G>A | |
| ENST00000651889.1:n.1059+1G>A | ||
| ENST00000651947.1:n.1428+1G>A | ||
| ENST00000652389.1:c.1340+1G>A | ENSP00000498414.1:n.1340+1G>A | |
| ENST00000652537.1:c.1340+1G>A | ENSP00000499102.1:n.1340+1G>A | |
| ENST00000652657.1:c.1340+1G>A | ENSP00000498887.1:n.1340+1G>A | |
| ENST00000676490.1:c.257+1G>A | ||
| ENST00000676539.1:c.119+1G>A | ||
| ENST00000676551.1:n.1439+1G>A | ||
| ENST00000676654.1:n.1469+1G>A | ||
| ENST00000676684.1:n.1469+1G>A | ||
| ENST00000676774.1:n.195+1G>A | ||
| ENST00000676809.1:c.1340+1G>A | ENSP00000504298.1:n.1340+1G>A | |
| ENST00000676912.1:c.1184+1G>A | ENSP00000503567.1:n.1184+1G>A | |
| ENST00000676930.1:c.993-2469G>A | ENSP00000502899.1:n.993-2469G>A | |
| ENST00000677499.1:c.1340+1G>A | ENSP00000502875.1:n.1340+1G>A | |
| ENST00000677632.1:c.1340+1G>A | ENSP00000504586.1:n.1340+1G>A | |
| ENST00000677641.1:c.1340+1G>A | ENSP00000504637.1:n.1340+1G>A | |
| ENST00000677686.1:n.3724+1G>A | ||
| ENST00000677831.1:c.1340+1G>A | ENSP00000503760.1:n.1340+1G>A | |
| ENST00000678180.1:c.1340+1G>A | ENSP00000504132.1:n.1340+1G>A | |
| ENST00000678197.1:n.1323+1G>A | ||
| ENST00000678582.1:c.92+1G>A | ENSP00000504002.1:n.92+1G>A | |
| ENST00000331710.9:c.1340+1G>A | ENSP00000329967.5:n.1340+1G>A | |
| ENST00000536906.1:n.656+1G>A | ||
| NM_013254.3:c.1340+1G>A | NP_037386.1:n.1340+1G>A | |
| XM_005268809.1:c.1340+1G>A | XP_005268866.1:n.1340+1G>A | |
| XM_005268810.1:c.1340+1G>A | XP_005268867.1:n.1340+1G>A | |
| XR_944524.1:n.1499+1G>A | ||
| XR_944525.1:n.1499+1G>A | ||
| XR_001748674.2:n.1454+1G>A | ||
| NM_013254.4:c.1340+1G>A MANE Select | NP_037386.1:n.1340+1G>A |