Linked Data
ClinVar Variation Id:
392689
ClinVar RCV Id:
RCV000433649
RCV000726928
RCV001130930
RCV001130931
RCV001130932
RCV001130933
RCV001130934
RCV001429086
dbSNP Id:
rs748478445
ExAC:
2:179575659 G / A
gnomAD v2:
2-179575659-G-A
gnomAD v4:
2-178710932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178710932G>A , CM000664.2:g.178710932G>A | GRCh38 |
| NC_000002.11:g.179575659G>A , CM000664.1:g.179575659G>A | GRCh37 |
| NC_000002.10:g.179283904G>A | NCBI36 |
| NG_011618.3:g.124871C>T , LRG_391:g.124871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.24443-10C>T | ENSP00000343764.6:n.24443-10C>T | |
| ENST00000342175.11:c.13858+27150C>T | ENSP00000340554.6:n.13858+27150C>T | |
| ENST00000359218.10:c.13657+27150C>T | ENSP00000352154.5:n.13657+27150C>T | |
| ENST00000342175.10:c.13858+27150C>T | ENSP00000340554.6:n.13858+27150C>T | |
| ENST00000342992.10:c.24443-10C>T | ENSP00000343764.6:n.24443-10C>T | |
| ENST00000359218.9:c.13657+27150C>T | ENSP00000352154.5:n.13657+27150C>T | |
| ENST00000460472.6:c.13282+27150C>T | ENSP00000434586.1:n.13282+27150C>T | |
| ENST00000589042.5:c.28175-10C>T MANE Select | ENSP00000467141.1:n.28175-10C>T | |
| ENST00000591111.5:c.27224-10C>T | ENSP00000465570.1:n.27224-10C>T | |
| ENST00000615779.4:c.27224-10C>T | ENSP00000483597.1:n.27224-10C>T | |
| NM_001256850.1:c.27224-10C>T | NP_001243779.1:n.27224-10C>T | |
| NM_001267550.2:c.28175-10C>T MANE Select | NP_001254479.2:n.28175-10C>T | |
| NM_003319.4:c.13282+27150C>T | NP_003310.4:n.13282+27150C>T | |
| NM_133378.4:c.24443-10C>T | NP_596869.4:n.24443-10C>T | |
| NM_133432.3:c.13657+27150C>T | NP_597676.3:n.13657+27150C>T | |
| NM_133437.4:c.13858+27150C>T | NP_597681.4:n.13858+27150C>T | |
| XM_011511729.1:c.27272-10C>T | XP_011510031.1:n.27272-10C>T | |
| XM_011511730.1:c.13468+27150C>T | XP_011510032.1:n.13468+27150C>T | |
| XM_011511731.1:c.13327+27150C>T | XP_011510033.1:n.13327+27150C>T | |
| XM_017004819.1:c.27227-10C>T | XP_016860308.1:n.27227-10C>T | |
| XM_017004820.1:c.24446-10C>T | XP_016860309.1:n.24446-10C>T | |
| XM_017004821.1:c.24443-10C>T | XP_016860310.1:n.24443-10C>T | |
| XM_017004822.1:c.27227-10C>T | XP_016860311.1:n.27227-10C>T | |
| XM_017004823.1:c.13423+27150C>T | XP_016860312.1:n.13423+27150C>T | |
| XM_024453094.1:c.27227-10C>T | XP_024308862.1:n.27227-10C>T | |
| XM_024453095.1:c.27227-10C>T | XP_024308863.1:n.27227-10C>T | |
| XM_024453096.1:c.27227-10C>T | XP_024308864.1:n.27227-10C>T | |
| XM_024453097.1:c.27227-10C>T | XP_024308865.1:n.27227-10C>T | |
| XM_024453098.1:c.27227-10C>T | XP_024308866.1:n.27227-10C>T | |
| XM_024453099.1:c.13423+27150C>T | XP_024308867.1:n.13423+27150C>T |