Linked Data
ClinVar Variation Id:
167788
dbSNP Id:
rs727504198
gnomAD v2:
2-179501491-C-A
gnomAD v3:
2-178636764-C-A
gnomAD v4:
2-178636764-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636764C>A , CM000664.2:g.178636764C>A | GRCh38 |
| NC_000002.11:g.179501491C>A , CM000664.1:g.179501491C>A | GRCh37 |
| NC_000002.10:g.179209736C>A | NCBI36 |
| NG_011618.3:g.199039G>T , LRG_391:g.199039G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33259G>T | ENSP00000343764.6:p.Glu11087Ter | |
| ENST00000342175.11:c.14344G>T | ENSP00000340554.6:p.Glu4782Ter | |
| ENST00000359218.10:c.14143G>T | ENSP00000352154.5:p.Glu4715Ter | |
| ENST00000342175.10:c.14344G>T | ENSP00000340554.6:p.Glu4782Ter | |
| ENST00000342992.10:c.33259G>T | ENSP00000343764.6:p.Glu11087Ter | |
| ENST00000359218.9:c.14143G>T | ENSP00000352154.5:p.Glu4715Ter | |
| ENST00000414766.5:c.2875G>T | ENSP00000401501.1:p.Glu959Ter | |
| ENST00000460472.6:c.13768G>T | ENSP00000434586.1:p.Glu4590Ter | |
| ENST00000589042.5:c.40963G>T MANE Select | ENSP00000467141.1:p.Glu13655Ter | |
| ENST00000591111.5:c.36040G>T | ENSP00000465570.1:p.Glu12014Ter | |
| ENST00000615779.4:c.36040G>T | ENSP00000483597.1:p.Glu12014Ter | |
| NM_001256850.1:c.36040G>T | NP_001243779.1:p.Glu12014Ter | |
| NM_001267550.2:c.40963G>T MANE Select | NP_001254479.2:p.Glu13655Ter | |
| NM_003319.4:c.13768G>T | NP_003310.4:p.Glu4590Ter | |
| NM_133378.4:c.33259G>T | NP_596869.4:p.Glu11087Ter | |
| NM_133432.3:c.14143G>T | NP_597676.3:p.Glu4715Ter | |
| NM_133437.4:c.14344G>T | NP_597681.4:p.Glu4782Ter | |
| XM_011511729.1:c.40060G>T | XP_011510031.1:p.Glu13354Ter | |
| XM_011511730.1:c.13954G>T | XP_011510032.1:p.Glu4652Ter | |
| XM_011511731.1:c.13813G>T | XP_011510033.1:p.Glu4605Ter | |
| XM_017004819.1:c.39856G>T | XP_016860308.1:p.Glu13286Ter | |
| XM_017004820.1:c.35254G>T | XP_016860309.1:p.Glu11752Ter | |
| XM_017004821.1:c.35251G>T | XP_016860310.1:p.Glu11751Ter | |
| XM_017004822.1:c.32293G>T | XP_016860311.1:p.Glu10765Ter | |
| XM_017004823.1:c.13909G>T | XP_016860312.1:p.Glu4637Ter | |
| XM_024453094.1:c.35404G>T | XP_024308862.1:p.Glu11802Ter | |
| XM_024453095.1:c.35401G>T | XP_024308863.1:p.Glu11801Ter | |
| XM_024453096.1:c.34834G>T | XP_024308864.1:p.Glu11612Ter | |
| XM_024453097.1:c.32176G>T | XP_024308865.1:p.Glu10726Ter | |
| XM_024453098.1:c.32095G>T | XP_024308866.1:p.Glu10699Ter | |
| XM_024453099.1:c.13858G>T | XP_024308867.1:p.Glu4620Ter | |
| XM_024453100.1:c.3712G>T | XP_024308868.1:p.Glu1238Ter |