Linked Data
ClinVar Variation Id:
178211
ClinVar RCV Id:
RCV000154945
RCV000725294
RCV000617257
RCV001082787
RCV001129748
RCV001129750
RCV001129749
RCV001129751
RCV001798507
RCV001129752
RCV004544425
dbSNP Id:
rs72677223
ExAC:
2:179486278 G / A
gnomAD v2:
2-179486278-G-A
gnomAD v3:
2-178621551-G-A
gnomAD v4:
2-178621551-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621551G>A , CM000664.2:g.178621551G>A | GRCh38 |
| NC_000002.11:g.179486278G>A , CM000664.1:g.179486278G>A | GRCh37 |
| NC_000002.10:g.179194523G>A | NCBI36 |
| NG_011618.3:g.214252C>T , LRG_391:g.214252C>T | |
| NG_051363.1:g.103725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37569C>T | ENSP00000343764.6:p.Asn12523= | |
| ENST00000342175.11:c.18654C>T | ENSP00000340554.6:p.Asn6218= | |
| ENST00000359218.10:c.18453C>T | ENSP00000352154.5:p.Asn6151= | |
| ENST00000342175.10:c.18654C>T | ENSP00000340554.6:p.Asn6218= | |
| ENST00000342992.10:c.37569C>T | ENSP00000343764.6:p.Asn12523= | |
| ENST00000359218.9:c.18453C>T | ENSP00000352154.5:p.Asn6151= | |
| ENST00000460472.6:c.18078C>T | ENSP00000434586.1:p.Asn6026= | |
| ENST00000589042.5:c.45273C>T MANE Select | ENSP00000467141.1:p.Asn15091= | |
| ENST00000591111.5:c.40350C>T | ENSP00000465570.1:p.Asn13450= | |
| ENST00000615779.4:c.40350C>T | ENSP00000483597.1:p.Asn13450= | |
| NM_001256850.1:c.40350C>T | NP_001243779.1:p.Asn13450= | |
| NM_001267550.2:c.45273C>T MANE Select | NP_001254479.2:p.Asn15091= | |
| NM_003319.4:c.18078C>T | NP_003310.4:p.Asn6026= | |
| NM_133378.4:c.37569C>T | NP_596869.4:p.Asn12523= | |
| NM_133432.3:c.18453C>T | NP_597676.3:p.Asn6151= | |
| NM_133437.4:c.18654C>T | NP_597681.4:p.Asn6218= | |
| XM_011511729.1:c.44370C>T | XP_011510031.1:p.Asn14790= | |
| XM_011511730.1:c.18264C>T | XP_011510032.1:p.Asn6088= | |
| XM_011511731.1:c.18123C>T | XP_011510033.1:p.Asn6041= | |
| XM_017004819.1:c.44166C>T | XP_016860308.1:p.Asn14722= | |
| XM_017004820.1:c.39564C>T | XP_016860309.1:p.Asn13188= | |
| XM_017004821.1:c.39561C>T | XP_016860310.1:p.Asn13187= | |
| XM_017004822.1:c.36603C>T | XP_016860311.1:p.Asn12201= | |
| XM_017004823.1:c.18219C>T | XP_016860312.1:p.Asn6073= | |
| XM_024453094.1:c.39714C>T | XP_024308862.1:p.Asn13238= | |
| XM_024453095.1:c.39711C>T | XP_024308863.1:p.Asn13237= | |
| XM_024453096.1:c.39144C>T | XP_024308864.1:p.Asn13048= | |
| XM_024453097.1:c.36486C>T | XP_024308865.1:p.Asn12162= | |
| XM_024453098.1:c.36405C>T | XP_024308866.1:p.Asn12135= | |
| XM_024453099.1:c.18168C>T | XP_024308867.1:p.Asn6056= | |
| XM_024453100.1:c.8022C>T | XP_024308868.1:p.Asn2674= |