Linked Data
ClinVar Variation Id:
179648
ClinVar RCV Id:
RCV000156444
RCV000475607
RCV000620906
RCV003149957
RCV001262303
RCV004535009
RCV003137680
dbSNP Id:
rs727505020
ExAC:
2:179397081 G / A
gnomAD v2:
2-179397081-G-A
gnomAD v3:
2-178532354-G-A
gnomAD v4:
2-178532354-G-A
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532354G>A , CM000664.2:g.178532354G>A | GRCh38 |
| NC_000002.11:g.179397081G>A , CM000664.1:g.179397081G>A | GRCh37 |
| NC_000002.10:g.179105327G>A | NCBI36 |
| NG_011618.3:g.303449C>T , LRG_391:g.303449C>T | |
| NG_051363.1:g.14528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96557C>T (TTN) | ENSP00000343764.6:p.Ala32186Val | |
| ENST00000342175.11:c.77642C>T (TTN) | ENSP00000340554.6:p.Ala25881Val | |
| ENST00000359218.10:c.77441C>T (TTN) | ENSP00000352154.5:p.Ala25814Val | |
| ENST00000342175.10:c.77642C>T (TTN) | ENSP00000340554.6:p.Ala25881Val | |
| ENST00000342992.10:c.96557C>T (TTN) | ENSP00000343764.6:p.Ala32186Val | |
| ENST00000359218.9:c.77441C>T (TTN) | ENSP00000352154.5:p.Ala25814Val | |
| ENST00000460472.6:c.77066C>T (TTN) | ENSP00000434586.1:p.Ala25689Val | |
| ENST00000589042.5:c.104261C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala34754Val | |
| ENST00000591111.5:c.99338C>T (TTN) | ENSP00000465570.1:p.Ala33113Val | |
| ENST00000615779.4:c.99338C>T (TTN) | ENSP00000483597.1:p.Ala33113Val | |
| NM_001256850.1:c.99338C>T (TTN) | NP_001243779.1:p.Ala33113Val | |
| NM_001267550.2:c.104261C>T (TTN) MANE Select | NP_001254479.2:p.Ala34754Val | |
| NM_003319.4:c.77066C>T (TTN) | NP_003310.4:p.Ala25689Val | |
| NM_133378.4:c.96557C>T (TTN) | NP_596869.4:p.Ala32186Val | |
| NM_133432.3:c.77441C>T (TTN) | NP_597676.3:p.Ala25814Val | |
| NM_133437.4:c.77642C>T (TTN) | NP_597681.4:p.Ala25881Val | |
| NR_038271.1:n.446+8718G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3378G>A (TTN-AS1) | ||
| XM_011511729.1:c.103358C>T (TTN) | XP_011510031.1:p.Ala34453Val | |
| XM_011511730.1:c.77252C>T (TTN) | XP_011510032.1:p.Ala25751Val | |
| XM_011511731.1:c.77111C>T (TTN) | XP_011510033.1:p.Ala25704Val | |
| XM_017004819.1:c.103154C>T (TTN) | XP_016860308.1:p.Ala34385Val | |
| XM_017004820.1:c.98552C>T (TTN) | XP_016860309.1:p.Ala32851Val | |
| XM_017004821.1:c.98549C>T (TTN) | XP_016860310.1:p.Ala32850Val | |
| XM_017004822.1:c.95591C>T (TTN) | XP_016860311.1:p.Ala31864Val | |
| XM_017004823.1:c.77207C>T (TTN) | XP_016860312.1:p.Ala25736Val | |
| XM_024453094.1:c.98702C>T (TTN) | XP_024308862.1:p.Ala32901Val | |
| XM_024453095.1:c.98699C>T (TTN) | XP_024308863.1:p.Ala32900Val | |
| XM_024453096.1:c.98132C>T (TTN) | XP_024308864.1:p.Ala32711Val | |
| XM_024453097.1:c.95474C>T (TTN) | XP_024308865.1:p.Ala31825Val | |
| XM_024453098.1:c.95393C>T (TTN) | XP_024308866.1:p.Ala31798Val | |
| XM_024453099.1:c.77156C>T (TTN) | XP_024308867.1:p.Ala25719Val | |
| XM_024453100.1:c.67010C>T (TTN) | XP_024308868.1:p.Ala22337Val |