Linked Data
ClinVar Variation Id:
167787
ClinVar RCV Id:
RCV000154954
RCV000864708
RCV001131537
RCV001134531
RCV001131536
RCV001131538
RCV001134530
RCV001727605
RCV002390342
dbSNP Id:
rs143049740
ExAC:
2:179501288 G / A
gnomAD v2:
2-179501288-G-A
gnomAD v3:
2-178636561-G-A
gnomAD v4:
2-178636561-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636561G>A , CM000664.2:g.178636561G>A | GRCh38 |
| NC_000002.11:g.179501288G>A , CM000664.1:g.179501288G>A | GRCh37 |
| NC_000002.10:g.179209533G>A | NCBI36 |
| NG_011618.3:g.199242C>T , LRG_391:g.199242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33462C>T | ENSP00000343764.6:p.Asp11154= | |
| ENST00000342175.11:c.14547C>T | ENSP00000340554.6:p.Asp4849= | |
| ENST00000359218.10:c.14346C>T | ENSP00000352154.5:p.Asp4782= | |
| ENST00000342175.10:c.14547C>T | ENSP00000340554.6:p.Asp4849= | |
| ENST00000342992.10:c.33462C>T | ENSP00000343764.6:p.Asp11154= | |
| ENST00000359218.9:c.14346C>T | ENSP00000352154.5:p.Asp4782= | |
| ENST00000460472.6:c.13971C>T | ENSP00000434586.1:p.Asp4657= | |
| ENST00000589042.5:c.41166C>T MANE Select | ENSP00000467141.1:p.Asp13722= | |
| ENST00000591111.5:c.36243C>T | ENSP00000465570.1:p.Asp12081= | |
| ENST00000615779.4:c.36243C>T | ENSP00000483597.1:p.Asp12081= | |
| NM_001256850.1:c.36243C>T | NP_001243779.1:p.Asp12081= | |
| NM_001267550.2:c.41166C>T MANE Select | NP_001254479.2:p.Asp13722= | |
| NM_003319.4:c.13971C>T | NP_003310.4:p.Asp4657= | |
| NM_133378.4:c.33462C>T | NP_596869.4:p.Asp11154= | |
| NM_133432.3:c.14346C>T | NP_597676.3:p.Asp4782= | |
| NM_133437.4:c.14547C>T | NP_597681.4:p.Asp4849= | |
| XM_011511729.1:c.40263C>T | XP_011510031.1:p.Asp13421= | |
| XM_011511730.1:c.14157C>T | XP_011510032.1:p.Asp4719= | |
| XM_011511731.1:c.14016C>T | XP_011510033.1:p.Asp4672= | |
| XM_017004819.1:c.40059C>T | XP_016860308.1:p.Asp13353= | |
| XM_017004820.1:c.35457C>T | XP_016860309.1:p.Asp11819= | |
| XM_017004821.1:c.35454C>T | XP_016860310.1:p.Asp11818= | |
| XM_017004822.1:c.32496C>T | XP_016860311.1:p.Asp10832= | |
| XM_017004823.1:c.14112C>T | XP_016860312.1:p.Asp4704= | |
| XM_024453094.1:c.35607C>T | XP_024308862.1:p.Asp11869= | |
| XM_024453095.1:c.35604C>T | XP_024308863.1:p.Asp11868= | |
| XM_024453096.1:c.35037C>T | XP_024308864.1:p.Asp11679= | |
| XM_024453097.1:c.32379C>T | XP_024308865.1:p.Asp10793= | |
| XM_024453098.1:c.32298C>T | XP_024308866.1:p.Asp10766= | |
| XM_024453099.1:c.14061C>T | XP_024308867.1:p.Asp4687= | |
| XM_024453100.1:c.3915C>T | XP_024308868.1:p.Asp1305= |