Linked Data
ClinVar Variation Id:
139445
ClinVar RCV Id:
RCV000128408
dbSNP Id:
rs587777466
gnomAD v3:
17-562498-C-T
gnomAD v4:
17-562498-C-T
PubMed:
PMID:24577744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.562498C>T , CM000679.2:g.562498C>T | GRCh38 |
| NC_000017.10:g.465738C>T , CM000679.1:g.465738C>T | GRCh37 |
| NC_000017.9:g.412488C>T | NCBI36 |
| NG_034190.1:g.157359G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291074.10:c.1469+5G>A | ENSP00000291074.5:n.1469+5G>A | |
| ENST00000437048.7:c.1556+5G>A MANE Select | ENSP00000401435.2:n.1556+5G>A | |
| ENST00000571805.6:c.1556+5G>A | ENSP00000459312.1:n.1556+5G>A | |
| ENST00000572334.7:c.1187+5G>A | ENSP00000506188.1:n.1187+5G>A | |
| ENST00000572607.2:n.386+5G>A | ||
| ENST00000679361.1:c.1556+5G>A | ENSP00000504978.1:n.1556+5G>A | |
| ENST00000679959.1:c.1089+5G>A | ENSP00000506180.1:n.1089+5G>A | |
| ENST00000680069.1:c.1556+5G>A | ENSP00000505145.1:n.1556+5G>A | |
| ENST00000680114.1:c.1082+5G>A | ENSP00000505327.1:n.1082+5G>A | |
| ENST00000680128.1:c.1352+5G>A | ENSP00000506159.1:n.1352+5G>A | |
| ENST00000680274.1:n.1118+5G>A | ||
| ENST00000680465.1:c.1556+5G>A | ENSP00000505997.1:n.1556+5G>A | |
| ENST00000680641.1:c.*1376+5G>A | ENSP00000505237.1:n.*1376+5G>A | |
| ENST00000680702.1:n.461+5G>A | ||
| ENST00000680704.1:c.1187+5G>A | ENSP00000506453.1:n.1187+5G>A | |
| ENST00000680872.1:c.*682+5G>A | ENSP00000506605.1:n.*682+5G>A | |
| ENST00000680944.1:n.951+5G>A | ||
| ENST00000680958.1:n.1463+5G>A | ||
| ENST00000681096.1:c.1097+5G>A | ENSP00000506052.1:n.1097+5G>A | |
| ENST00000681154.1:c.1469+5G>A | ENSP00000505866.1:n.1469+5G>A | |
| ENST00000681160.1:c.1187+5G>A | ENSP00000504905.1:n.1187+5G>A | |
| ENST00000681317.1:c.1556+5G>A | ENSP00000505190.1:n.1556+5G>A | |
| ENST00000681478.1:c.*1376+5G>A | ENSP00000505041.1:n.*1376+5G>A | |
| ENST00000681510.1:c.1406+5G>A | ENSP00000505594.1:n.1406+5G>A | |
| ENST00000681600.1:n.651+5G>A | ||
| ENST00000681661.1:c.*537+5G>A | ENSP00000506596.1:n.*537+5G>A | |
| ENST00000681830.1:c.1105+5G>A | ENSP00000505322.1:n.1105+5G>A | |
| ENST00000681897.1:n.808+5G>A | ||
| ENST00000681902.1:c.1556+5G>A | ENSP00000505328.1:n.1556+5G>A | |
| ENST00000681917.1:c.1025+5G>A | ENSP00000505944.1:n.1025+5G>A | |
| ENST00000681943.1:c.1422+5G>A | ENSP00000504889.1:n.1422+5G>A | |
| ENST00000681946.1:c.*537+5G>A | ENSP00000505563.1:n.*537+5G>A | |
| ENST00000291074.9:c.1469+5G>A | ENSP00000291074.5:n.1469+5G>A | |
| ENST00000389040.9:c.1412+5G>A | ENSP00000373692.5:n.1412+5G>A | |
| ENST00000401468.7:c.725+5G>A | ENSP00000384294.3:n.725+5G>A | |
| ENST00000437048.6:c.1556+5G>A | ENSP00000401435.2:n.1556+5G>A | |
| ENST00000571805.5:c.1556+5G>A | ENSP00000459312.1:n.1556+5G>A | |
| ENST00000572607.1:n.184+5G>A | ||
| ENST00000573028.5:c.*1003+5G>A | ENSP00000458311.1:n.*1003+5G>A | |
| ENST00000574029.5:c.207-44859G>A | ENSP00000459159.1:n.207-44859G>A | |
| ENST00000576149.5:n.1326+5G>A | ||
| NM_001128159.2:c.1556+5G>A | NP_001121631.1:n.1556+5G>A | |
| NM_018289.3:c.1469+5G>A | NP_060759.2:n.1469+5G>A | |
| XM_011523953.1:c.962+5G>A | XP_011522255.1:n.962+5G>A | |
| XR_934061.1:n.1853+5G>A | ||
| XR_934062.1:n.1608+5G>A | ||
| NM_001366253.1:c.1556+5G>A | NP_001353182.1:n.1556+5G>A | |
| NM_001366254.1:c.962+5G>A | NP_001353183.1:n.962+5G>A | |
| XM_017024817.2:c.1406+5G>A | XP_016880306.1:n.1406+5G>A | |
| XM_017024818.1:c.1187+5G>A | XP_016880307.1:n.1187+5G>A | |
| XR_001752553.2:n.1693+5G>A | ||
| XR_934061.3:n.1843+5G>A | ||
| XR_934062.2:n.1598+5G>A | ||
| NM_001128159.3:c.1556+5G>A MANE Select | NP_001121631.1:n.1556+5G>A | |
| NM_001366253.2:c.1556+5G>A | NP_001353182.1:n.1556+5G>A | |
| NM_001366254.2:c.962+5G>A | NP_001353183.1:n.962+5G>A | |
| NM_018289.4:c.1469+5G>A | NP_060759.2:n.1469+5G>A |