Linked Data
ClinVar Variation Id:
178203
ClinVar RCV Id:
RCV000154934
RCV000643026
RCV000765564
RCV000786261
RCV001129407
RCV001129409
RCV001129410
RCV001129411
RCV001129408
dbSNP Id:
rs369476725
ExAC:
2:179456902 G / A
gnomAD v2:
2-179456902-G-A
gnomAD v3:
2-178592175-G-A
gnomAD v4:
2-178592175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592175G>A , CM000664.2:g.178592175G>A | GRCh38 |
| NC_000002.11:g.179456902G>A , CM000664.1:g.179456902G>A | GRCh37 |
| NC_000002.10:g.179165148G>A | NCBI36 |
| NG_011618.3:g.243628C>T , LRG_391:g.243628C>T | |
| NG_051363.1:g.74349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52025C>T (TTN) | ENSP00000343764.6:p.Thr17342Ile | |
| ENST00000342175.11:c.33110C>T (TTN) | ENSP00000340554.6:p.Thr11037Ile | |
| ENST00000359218.10:c.32909C>T (TTN) | ENSP00000352154.5:p.Thr10970Ile | |
| ENST00000342175.10:c.33110C>T (TTN) | ENSP00000340554.6:p.Thr11037Ile | |
| ENST00000342992.10:c.52025C>T (TTN) | ENSP00000343764.6:p.Thr17342Ile | |
| ENST00000359218.9:c.32909C>T (TTN) | ENSP00000352154.5:p.Thr10970Ile | |
| ENST00000460472.6:c.32534C>T (TTN) | ENSP00000434586.1:p.Thr10845Ile | |
| ENST00000589042.5:c.59729C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr19910Ile | |
| ENST00000591111.5:c.54806C>T (TTN) | ENSP00000465570.1:p.Thr18269Ile | |
| ENST00000615779.4:c.54806C>T (TTN) | ENSP00000483597.1:p.Thr18269Ile | |
| NM_001256850.1:c.54806C>T (TTN) | NP_001243779.1:p.Thr18269Ile | |
| NM_001267550.2:c.59729C>T (TTN) MANE Select | NP_001254479.2:p.Thr19910Ile | |
| NM_003319.4:c.32534C>T (TTN) | NP_003310.4:p.Thr10845Ile | |
| NM_133378.4:c.52025C>T (TTN) | NP_596869.4:p.Thr17342Ile | |
| NM_133432.3:c.32909C>T (TTN) | NP_597676.3:p.Thr10970Ile | |
| NM_133437.4:c.33110C>T (TTN) | NP_597681.4:p.Thr11037Ile | |
| NR_038271.1:n.597-5421G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+861G>A (TTN-AS1) | ||
| XM_011511729.1:c.58826C>T (TTN) | XP_011510031.1:p.Thr19609Ile | |
| XM_011511730.1:c.32720C>T (TTN) | XP_011510032.1:p.Thr10907Ile | |
| XM_011511731.1:c.32579C>T (TTN) | XP_011510033.1:p.Thr10860Ile | |
| XM_017004819.1:c.58622C>T (TTN) | XP_016860308.1:p.Thr19541Ile | |
| XM_017004820.1:c.54020C>T (TTN) | XP_016860309.1:p.Thr18007Ile | |
| XM_017004821.1:c.54017C>T (TTN) | XP_016860310.1:p.Thr18006Ile | |
| XM_017004822.1:c.51059C>T (TTN) | XP_016860311.1:p.Thr17020Ile | |
| XM_017004823.1:c.32675C>T (TTN) | XP_016860312.1:p.Thr10892Ile | |
| XM_024453094.1:c.54170C>T (TTN) | XP_024308862.1:p.Thr18057Ile | |
| XM_024453095.1:c.54167C>T (TTN) | XP_024308863.1:p.Thr18056Ile | |
| XM_024453096.1:c.53600C>T (TTN) | XP_024308864.1:p.Thr17867Ile | |
| XM_024453097.1:c.50942C>T (TTN) | XP_024308865.1:p.Thr16981Ile | |
| XM_024453098.1:c.50861C>T (TTN) | XP_024308866.1:p.Thr16954Ile | |
| XM_024453099.1:c.32624C>T (TTN) | XP_024308867.1:p.Thr10875Ile | |
| XM_024453100.1:c.22478C>T (TTN) | XP_024308868.1:p.Thr7493Ile |