Linked Data
ClinVar Variation Id:
192143
ClinVar RCV Id:
RCV000172619
RCV000213505
RCV000244689
RCV001080503
RCV001132342
RCV001129598
RCV001129600
RCV001129597
RCV001129599
RCV001171247
dbSNP Id:
rs180975448
ExAC:
2:179413348 C / A
gnomAD v2:
2-179413348-C-A
gnomAD v3:
2-178548621-C-A
gnomAD v4:
2-178548621-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548621C>A , CM000664.2:g.178548621C>A | GRCh38 |
| NC_000002.11:g.179413348C>A , CM000664.1:g.179413348C>A | GRCh37 |
| NC_000002.10:g.179121594C>A | NCBI36 |
| NG_011618.3:g.287182G>T , LRG_391:g.287182G>T | |
| NG_051363.1:g.30795C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85301G>T (TTN) | ENSP00000343764.6:p.Ser28434Ile | |
| ENST00000342175.11:c.66386G>T (TTN) | ENSP00000340554.6:p.Ser22129Ile | |
| ENST00000359218.10:c.66185G>T (TTN) | ENSP00000352154.5:p.Ser22062Ile | |
| ENST00000342175.10:c.66386G>T (TTN) | ENSP00000340554.6:p.Ser22129Ile | |
| ENST00000342992.10:c.85301G>T (TTN) | ENSP00000343764.6:p.Ser28434Ile | |
| ENST00000359218.9:c.66185G>T (TTN) | ENSP00000352154.5:p.Ser22062Ile | |
| ENST00000460472.6:c.65810G>T (TTN) | ENSP00000434586.1:p.Ser21937Ile | |
| ENST00000589042.5:c.93005G>T (TTN) MANE Select | ENSP00000467141.1:p.Ser31002Ile | |
| ENST00000591111.5:c.88082G>T (TTN) | ENSP00000465570.1:p.Ser29361Ile | |
| ENST00000615779.4:c.88082G>T (TTN) | ENSP00000483597.1:p.Ser29361Ile | |
| NM_001256850.1:c.88082G>T (TTN) | NP_001243779.1:p.Ser29361Ile | |
| NM_001267550.2:c.93005G>T (TTN) MANE Select | NP_001254479.2:p.Ser31002Ile | |
| NM_003319.4:c.65810G>T (TTN) | NP_003310.4:p.Ser21937Ile | |
| NM_133378.4:c.85301G>T (TTN) | NP_596869.4:p.Ser28434Ile | |
| NM_133432.3:c.66185G>T (TTN) | NP_597676.3:p.Ser22062Ile | |
| NM_133437.4:c.66386G>T (TTN) | NP_597681.4:p.Ser22129Ile | |
| NR_038271.1:n.447-22679C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6260C>A (TTN-AS1) | ||
| XM_011511729.1:c.92102G>T (TTN) | XP_011510031.1:p.Ser30701Ile | |
| XM_011511730.1:c.65996G>T (TTN) | XP_011510032.1:p.Ser21999Ile | |
| XM_011511731.1:c.65855G>T (TTN) | XP_011510033.1:p.Ser21952Ile | |
| XM_017004819.1:c.91898G>T (TTN) | XP_016860308.1:p.Ser30633Ile | |
| XM_017004820.1:c.87296G>T (TTN) | XP_016860309.1:p.Ser29099Ile | |
| XM_017004821.1:c.87293G>T (TTN) | XP_016860310.1:p.Ser29098Ile | |
| XM_017004822.1:c.84335G>T (TTN) | XP_016860311.1:p.Ser28112Ile | |
| XM_017004823.1:c.65951G>T (TTN) | XP_016860312.1:p.Ser21984Ile | |
| XM_024453094.1:c.87446G>T (TTN) | XP_024308862.1:p.Ser29149Ile | |
| XM_024453095.1:c.87443G>T (TTN) | XP_024308863.1:p.Ser29148Ile | |
| XM_024453096.1:c.86876G>T (TTN) | XP_024308864.1:p.Ser28959Ile | |
| XM_024453097.1:c.84218G>T (TTN) | XP_024308865.1:p.Ser28073Ile | |
| XM_024453098.1:c.84137G>T (TTN) | XP_024308866.1:p.Ser28046Ile | |
| XM_024453099.1:c.65900G>T (TTN) | XP_024308867.1:p.Ser21967Ile | |
| XM_024453100.1:c.55754G>T (TTN) | XP_024308868.1:p.Ser18585Ile |