Linked Data
ClinVar Variation Id:
47367
ClinVar RCV Id:
RCV000040637
RCV000252077
RCV000338511
RCV000299007
RCV000311963
RCV000369992
RCV000399563
RCV000993488
RCV001514400
dbSNP Id:
rs12463674
ExAC:
2:179432185 A / G
gnomAD v2:
2-179432185-A-G
gnomAD v3:
2-178567458-A-G
gnomAD v4:
2-178567458-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567458A>G , CM000664.2:g.178567458A>G | GRCh38 |
| NC_000002.11:g.179432185A>G , CM000664.1:g.179432185A>G | GRCh37 |
| NC_000002.10:g.179140431A>G | NCBI36 |
| NG_011618.3:g.268345T>C , LRG_391:g.268345T>C | |
| NG_051363.1:g.49632A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70970T>C (TTN) | ENSP00000343764.6:p.Ile23657Thr | |
| ENST00000342175.11:c.52055T>C (TTN) | ENSP00000340554.6:p.Ile17352Thr | |
| ENST00000359218.10:c.51854T>C (TTN) | ENSP00000352154.5:p.Ile17285Thr | |
| ENST00000342175.10:c.52055T>C (TTN) | ENSP00000340554.6:p.Ile17352Thr | |
| ENST00000342992.10:c.70970T>C (TTN) | ENSP00000343764.6:p.Ile23657Thr | |
| ENST00000359218.9:c.51854T>C (TTN) | ENSP00000352154.5:p.Ile17285Thr | |
| ENST00000460472.6:c.51479T>C (TTN) | ENSP00000434586.1:p.Ile17160Thr | |
| ENST00000589042.5:c.78674T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile26225Thr | |
| ENST00000591111.5:c.73751T>C (TTN) | ENSP00000465570.1:p.Ile24584Thr | |
| ENST00000615779.4:c.73751T>C (TTN) | ENSP00000483597.1:p.Ile24584Thr | |
| NM_001256850.1:c.73751T>C (TTN) | NP_001243779.1:p.Ile24584Thr | |
| NM_001267550.2:c.78674T>C (TTN) MANE Select | NP_001254479.2:p.Ile26225Thr | |
| NM_003319.4:c.51479T>C (TTN) | NP_003310.4:p.Ile17160Thr | |
| NM_133378.4:c.70970T>C (TTN) | NP_596869.4:p.Ile23657Thr | |
| NM_133432.3:c.51854T>C (TTN) | NP_597676.3:p.Ile17285Thr | |
| NM_133437.4:c.52055T>C (TTN) | NP_597681.4:p.Ile17352Thr | |
| NR_038271.1:n.447-3842A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15114A>G (TTN-AS1) | ||
| XM_011511729.1:c.77771T>C (TTN) | XP_011510031.1:p.Ile25924Thr | |
| XM_011511730.1:c.51665T>C (TTN) | XP_011510032.1:p.Ile17222Thr | |
| XM_011511731.1:c.51524T>C (TTN) | XP_011510033.1:p.Ile17175Thr | |
| XM_017004819.1:c.77567T>C (TTN) | XP_016860308.1:p.Ile25856Thr | |
| XM_017004820.1:c.72965T>C (TTN) | XP_016860309.1:p.Ile24322Thr | |
| XM_017004821.1:c.72962T>C (TTN) | XP_016860310.1:p.Ile24321Thr | |
| XM_017004822.1:c.70004T>C (TTN) | XP_016860311.1:p.Ile23335Thr | |
| XM_017004823.1:c.51620T>C (TTN) | XP_016860312.1:p.Ile17207Thr | |
| XM_024453094.1:c.73115T>C (TTN) | XP_024308862.1:p.Ile24372Thr | |
| XM_024453095.1:c.73112T>C (TTN) | XP_024308863.1:p.Ile24371Thr | |
| XM_024453096.1:c.72545T>C (TTN) | XP_024308864.1:p.Ile24182Thr | |
| XM_024453097.1:c.69887T>C (TTN) | XP_024308865.1:p.Ile23296Thr | |
| XM_024453098.1:c.69806T>C (TTN) | XP_024308866.1:p.Ile23269Thr | |
| XM_024453099.1:c.51569T>C (TTN) | XP_024308867.1:p.Ile17190Thr | |
| XM_024453100.1:c.41423T>C (TTN) | XP_024308868.1:p.Ile13808Thr |