Linked Data
ClinVar Variation Id:
228484
ClinVar RCV Id:
RCV000216452
RCV000486086
RCV000678531
RCV001089674
RCV001544540
RCV001833194
RCV003474998
dbSNP Id:
rs369396703
ExAC:
10:73437201 G / A
gnomAD v2:
10-73437201-G-A
gnomAD v3:
10-71677444-G-A
gnomAD v4:
10-71677444-G-A
ERepo:
CA5543878/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71677444G>A , CM000672.2:g.71677444G>A | GRCh38 |
| NC_000010.10:g.73437201G>A , CM000672.1:g.73437201G>A | GRCh37 |
| NC_000010.9:g.73107207G>A | NCBI36 |
| NG_008835.1:g.285498G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.1515-12G>A MANE Select | ENSP00000224721.9:n.1515-12G>A | |
| ENST00000398809.9:c.1515-12G>A | ENSP00000381789.5:n.1515-12G>A | |
| ENST00000442677.4:c.1515-12G>A | ENSP00000388894.3:n.1515-12G>A | |
| ENST00000466757.8:c.946-12G>A | ||
| ENST00000224721.10:c.1530-12G>A | ENSP00000224721.8:n.1530-12G>A | |
| ENST00000299366.11:c.1515-12G>A | ENSP00000299366.8:n.1515-12G>A | |
| ENST00000398809.8:c.1515-12G>A | ENSP00000381789.5:n.1515-12G>A | |
| ENST00000442677.3:c.290-12G>A | ||
| ENST00000466757.7:c.946-12G>A | ||
| ENST00000616684.4:c.1515-12G>A | ENSP00000482036.2:n.1515-12G>A | |
| ENST00000622827.4:c.1515-12G>A | ENSP00000483211.1:n.1515-12G>A | |
| NM_001171930.1:c.1515-12G>A | NP_001165401.1:n.1515-12G>A | |
| NM_001171931.1:c.1515-12G>A | NP_001165402.1:n.1515-12G>A | |
| NM_022124.5:c.1515-12G>A | NP_071407.4:n.1515-12G>A | |
| XM_006717940.2:c.1710-12G>A | XP_006718003.1:n.1710-12G>A | |
| XM_006717942.2:c.1644-12G>A | XP_006718005.1:n.1644-12G>A | |
| XM_011540039.1:c.1710-12G>A | XP_011538341.1:n.1710-12G>A | |
| XM_011540040.1:c.1704-12G>A | XP_011538342.1:n.1704-12G>A | |
| XM_011540041.1:c.1650-12G>A | XP_011538343.1:n.1650-12G>A | |
| XM_011540042.1:c.1710-12G>A | XP_011538344.1:n.1710-12G>A | |
| XM_011540043.1:c.1710-12G>A | XP_011538345.1:n.1710-12G>A | |
| XM_011540044.1:c.1575-12G>A | XP_011538346.1:n.1575-12G>A | |
| XM_011540045.1:c.1710-12G>A | XP_011538347.1:n.1710-12G>A | |
| XM_011540046.1:c.1170-12G>A | XP_011538348.1:n.1170-12G>A | |
| XM_011540047.1:c.528-12G>A | XP_011538349.1:n.528-12G>A | |
| XM_011540048.1:c.1710-12G>A | XP_011538350.1:n.1710-12G>A | |
| XM_011540049.1:c.1710-12G>A | XP_011538351.1:n.1710-12G>A | |
| XM_011540050.1:c.1710-12G>A | XP_011538352.1:n.1710-12G>A | |
| XM_011540051.1:c.1710-12G>A | XP_011538353.1:n.1710-12G>A | |
| XM_011540053.1:c.1710-12G>A | XP_011538355.1:n.1710-12G>A | |
| XM_011540054.1:c.1650-12G>A | XP_011538356.1:n.1650-12G>A | |
| XR_945796.1:n.1953-12G>A | ||
| NM_001171930.2:c.1515-12G>A | NP_001165401.1:n.1515-12G>A | |
| NM_001171931.2:c.1515-12G>A | NP_001165402.1:n.1515-12G>A | |
| NM_022124.6:c.1515-12G>A MANE Select | NP_071407.4:n.1515-12G>A |