Linked Data
ClinVar Variation Id:
1225238
ClinVar RCV Id:
RCV001608696
dbSNP Id:
rs2981804
gnomAD v2:
10-124333656-G-A
gnomAD v3:
10-122574140-G-A
gnomAD v4:
10-122574140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122574140G>A , CM000672.2:g.122574140G>A | GRCh38 |
| NC_000010.10:g.124333656G>A , CM000672.1:g.124333656G>A | GRCh37 |
| NC_000010.9:g.124323646G>A | NCBI36 |
| NG_012644.1:g.18476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338354.10:c.283+378G>A MANE Select | ENSP00000342210.4:n.283+378G>A | |
| ENST00000652446.2:c.283+378G>A | ENSP00000498825.1:n.283+378G>A | |
| ENST00000653442.1:c.283+378G>A | ENSP00000499436.1:n.283+378G>A | |
| ENST00000657942.1:c.283+378G>A | ENSP00000499391.1:n.283+378G>A | |
| ENST00000664692.1:c.283+378G>A | ENSP00000499397.1:n.283+378G>A | |
| ENST00000664974.1:c.283+378G>A | ENSP00000499641.1:n.283+378G>A | |
| ENST00000666315.1:c.283+378G>A | ENSP00000499304.1:n.283+378G>A | |
| ENST00000667454.1:n.308+378G>A | ||
| ENST00000330163.8:c.283+378G>A | ENSP00000327747.4:n.283+378G>A | |
| ENST00000338354.7:c.283+378G>A | ENSP00000342210.3:n.283+378G>A | |
| ENST00000344338.7:c.283+378G>A | ENSP00000343175.3:n.283+378G>A | |
| ENST00000359586.10:c.283+378G>A | ENSP00000352593.6:n.283+378G>A | |
| ENST00000368909.7:c.283+378G>A | ENSP00000357905.3:n.283+378G>A | |
| ENST00000368955.7:c.283+378G>A | ENSP00000357951.3:n.283+378G>A | |
| ENST00000368956.6:c.283+378G>A | ENSP00000357952.2:n.283+378G>A | |
| ENST00000619379.1:c.283+378G>A | ENSP00000484603.1:n.283+378G>A | |
| NM_004406.2:c.283+378G>A | NP_004397.2:n.283+378G>A | |
| NM_007329.2:c.283+378G>A | NP_015568.2:n.283+378G>A | |
| NM_017579.2:c.283+378G>A | NP_060049.2:n.283+378G>A | |
| XM_006717660.2:c.235+378G>A | XP_006717723.1:n.235+378G>A | |
| XM_006717665.2:c.187+378G>A | XP_006717728.1:n.187+378G>A | |
| XM_011539388.1:c.283+378G>A | XP_011537690.1:n.283+378G>A | |
| XM_011539389.1:c.283+378G>A | XP_011537691.1:n.283+378G>A | |
| XM_011539390.1:c.283+378G>A | XP_011537692.1:n.283+378G>A | |
| XM_011539391.1:c.283+378G>A | XP_011537693.1:n.283+378G>A | |
| XM_011539392.1:c.283+378G>A | XP_011537694.1:n.283+378G>A | |
| XM_011539393.1:c.283+378G>A | XP_011537695.1:n.283+378G>A | |
| XM_011539394.1:c.283+378G>A | XP_011537696.1:n.283+378G>A | |
| XM_011539395.1:c.283+378G>A | XP_011537697.1:n.283+378G>A | |
| XM_011539396.1:c.235+378G>A | XP_011537698.1:n.235+378G>A | |
| XM_011539397.1:c.283+378G>A | XP_011537699.1:n.283+378G>A | |
| XM_011539398.1:c.283+378G>A | XP_011537700.1:n.283+378G>A | |
| XM_011539399.1:c.188-2259G>A | XP_011537701.1:n.188-2259G>A | |
| XM_011539400.1:c.283+378G>A | XP_011537702.1:n.283+378G>A | |
| XM_011539401.1:c.283+378G>A | XP_011537703.1:n.283+378G>A | |
| XM_011539402.1:c.283+378G>A | XP_011537704.1:n.283+378G>A | |
| XM_011539403.1:c.283+378G>A | XP_011537705.1:n.283+378G>A | |
| XM_011539404.1:c.283+378G>A | XP_011537706.1:n.283+378G>A | |
| XM_011539405.1:c.283+378G>A | XP_011537707.1:n.283+378G>A | |
| XM_011539406.1:c.283+378G>A | XP_011537708.1:n.283+378G>A | |
| XM_011539407.1:c.283+378G>A | XP_011537709.1:n.283+378G>A | |
| XM_011539408.1:c.283+378G>A | XP_011537710.1:n.283+378G>A | |
| XM_011539409.1:c.283+378G>A | XP_011537711.1:n.283+378G>A | |
| XM_011539410.1:c.283+378G>A | XP_011537712.1:n.283+378G>A | |
| XM_011539411.1:c.283+378G>A | XP_011537713.1:n.283+378G>A | |
| XM_011539412.1:c.283+378G>A | XP_011537714.1:n.283+378G>A | |
| XM_011539413.1:c.283+378G>A | XP_011537715.1:n.283+378G>A | |
| XM_011539414.1:c.283+378G>A | XP_011537716.1:n.283+378G>A | |
| XM_011539415.1:c.283+378G>A | XP_011537717.1:n.283+378G>A | |
| NM_001320644.1:c.283+378G>A | NP_001307573.1:n.283+378G>A | |
| XM_006717660.3:c.235+378G>A | XP_006717723.1:n.235+378G>A | |
| XM_006717665.3:c.187+378G>A | XP_006717728.1:n.187+378G>A | |
| XM_011539388.3:c.283+378G>A | XP_011537690.1:n.283+378G>A | |
| XM_011539389.3:c.283+378G>A | XP_011537691.1:n.283+378G>A | |
| XM_011539390.3:c.283+378G>A | XP_011537692.1:n.283+378G>A | |
| XM_011539391.3:c.283+378G>A | XP_011537693.1:n.283+378G>A | |
| XM_011539392.3:c.283+378G>A | XP_011537694.1:n.283+378G>A | |
| XM_011539393.3:c.283+378G>A | XP_011537695.1:n.283+378G>A | |
| XM_011539394.3:c.283+378G>A | XP_011537696.1:n.283+378G>A | |
| XM_011539395.3:c.283+378G>A | XP_011537697.1:n.283+378G>A | |
| XM_011539396.2:c.235+378G>A | XP_011537698.1:n.235+378G>A | |
| XM_011539398.3:c.283+378G>A | XP_011537700.1:n.283+378G>A | |
| XM_011539399.2:c.188-2259G>A | XP_011537701.1:n.188-2259G>A | |
| XM_011539400.3:c.283+378G>A | XP_011537702.1:n.283+378G>A | |
| XM_011539401.3:c.283+378G>A | XP_011537703.1:n.283+378G>A | |
| XM_011539402.3:c.283+378G>A | XP_011537704.1:n.283+378G>A | |
| XM_011539403.3:c.283+378G>A | XP_011537705.1:n.283+378G>A | |
| XM_011539405.3:c.283+378G>A | XP_011537707.1:n.283+378G>A | |
| XM_011539407.3:c.283+378G>A | XP_011537709.1:n.283+378G>A | |
| XM_011539408.3:c.283+378G>A | XP_011537710.1:n.283+378G>A | |
| XM_011539409.3:c.283+378G>A | XP_011537711.1:n.283+378G>A | |
| XM_011539410.3:c.283+378G>A | XP_011537712.1:n.283+378G>A | |
| XM_011539411.3:c.283+378G>A | XP_011537713.1:n.283+378G>A | |
| XM_011539413.3:c.283+378G>A | XP_011537715.1:n.283+378G>A | |
| XM_011539414.3:c.283+378G>A | XP_011537716.1:n.283+378G>A | |
| XM_011539415.3:c.283+378G>A | XP_011537717.1:n.283+378G>A | |
| XM_024447854.1:c.283+378G>A | XP_024303622.1:n.283+378G>A | |
| NM_001320644.2:c.283+378G>A | NP_001307573.1:n.283+378G>A | |
| NM_001377530.1:c.283+378G>A MANE Select | NP_001364459.1:n.283+378G>A | |
| NM_004406.3:c.283+378G>A | NP_004397.2:n.283+378G>A | |
| NM_007329.3:c.283+378G>A | NP_015568.2:n.283+378G>A | |
| NM_017579.3:c.283+378G>A | NP_060049.2:n.283+378G>A |