Linked Data
ClinVar Variation Id:
47647
ClinVar RCV Id:
RCV000040916
RCV000172607
RCV000246004
RCV000279530
RCV000280823
RCV000316166
RCV000375400
RCV000378875
RCV000466398
dbSNP Id:
rs200237973
ExAC:
2:179399152 C / T
gnomAD v2:
2-179399152-C-T
gnomAD v3:
2-178534425-C-T
gnomAD v4:
2-178534425-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534425C>T , CM000664.2:g.178534425C>T | GRCh38 |
| NC_000002.11:g.179399152C>T , CM000664.1:g.179399152C>T | GRCh37 |
| NC_000002.10:g.179107398C>T | NCBI36 |
| NG_011618.3:g.301378G>A , LRG_391:g.301378G>A | |
| NG_051363.1:g.16599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94486G>A (TTN) | ENSP00000343764.6:p.Ala31496Thr | |
| ENST00000342175.11:c.75571G>A (TTN) | ENSP00000340554.6:p.Ala25191Thr | |
| ENST00000359218.10:c.75370G>A (TTN) | ENSP00000352154.5:p.Ala25124Thr | |
| ENST00000342175.10:c.75571G>A (TTN) | ENSP00000340554.6:p.Ala25191Thr | |
| ENST00000342992.10:c.94486G>A (TTN) | ENSP00000343764.6:p.Ala31496Thr | |
| ENST00000359218.9:c.75370G>A (TTN) | ENSP00000352154.5:p.Ala25124Thr | |
| ENST00000460472.6:c.74995G>A (TTN) | ENSP00000434586.1:p.Ala24999Thr | |
| ENST00000589042.5:c.102190G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala34064Thr | |
| ENST00000591111.5:c.97267G>A (TTN) | ENSP00000465570.1:p.Ala32423Thr | |
| ENST00000615779.4:c.97267G>A (TTN) | ENSP00000483597.1:p.Ala32423Thr | |
| NM_001256850.1:c.97267G>A (TTN) | NP_001243779.1:p.Ala32423Thr | |
| NM_001267550.2:c.102190G>A (TTN) MANE Select | NP_001254479.2:p.Ala34064Thr | |
| NM_003319.4:c.74995G>A (TTN) | NP_003310.4:p.Ala24999Thr | |
| NM_133378.4:c.94486G>A (TTN) | NP_596869.4:p.Ala31496Thr | |
| NM_133432.3:c.75370G>A (TTN) | NP_597676.3:p.Ala25124Thr | |
| NM_133437.4:c.75571G>A (TTN) | NP_597681.4:p.Ala25191Thr | |
| NR_038271.1:n.446+10789C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1307C>T (TTN-AS1) | ||
| XM_011511729.1:c.101287G>A (TTN) | XP_011510031.1:p.Ala33763Thr | |
| XM_011511730.1:c.75181G>A (TTN) | XP_011510032.1:p.Ala25061Thr | |
| XM_011511731.1:c.75040G>A (TTN) | XP_011510033.1:p.Ala25014Thr | |
| XM_017004819.1:c.101083G>A (TTN) | XP_016860308.1:p.Ala33695Thr | |
| XM_017004820.1:c.96481G>A (TTN) | XP_016860309.1:p.Ala32161Thr | |
| XM_017004821.1:c.96478G>A (TTN) | XP_016860310.1:p.Ala32160Thr | |
| XM_017004822.1:c.93520G>A (TTN) | XP_016860311.1:p.Ala31174Thr | |
| XM_017004823.1:c.75136G>A (TTN) | XP_016860312.1:p.Ala25046Thr | |
| XM_024453094.1:c.96631G>A (TTN) | XP_024308862.1:p.Ala32211Thr | |
| XM_024453095.1:c.96628G>A (TTN) | XP_024308863.1:p.Ala32210Thr | |
| XM_024453096.1:c.96061G>A (TTN) | XP_024308864.1:p.Ala32021Thr | |
| XM_024453097.1:c.93403G>A (TTN) | XP_024308865.1:p.Ala31135Thr | |
| XM_024453098.1:c.93322G>A (TTN) | XP_024308866.1:p.Ala31108Thr | |
| XM_024453099.1:c.75085G>A (TTN) | XP_024308867.1:p.Ala25029Thr | |
| XM_024453100.1:c.64939G>A (TTN) | XP_024308868.1:p.Ala21647Thr |