Linked Data
ClinVar Variation Id:
282662
ClinVar RCV Id:
RCV000402713
RCV001078694
RCV001133277
RCV001133278
RCV001133279
RCV001133280
RCV001133281
dbSNP Id:
rs199933004
ExAC:
2:179458094 A / G
gnomAD v2:
2-179458094-A-G
gnomAD v3:
2-178593367-A-G
gnomAD v4:
2-178593367-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593367A>G , CM000664.2:g.178593367A>G | GRCh38 |
| NC_000002.11:g.179458094A>G , CM000664.1:g.179458094A>G | GRCh37 |
| NC_000002.10:g.179166340A>G | NCBI36 |
| NG_011618.3:g.242436T>C , LRG_391:g.242436T>C | |
| NG_051363.1:g.75541A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51137T>C (TTN) | ENSP00000343764.6:p.Ile17046Thr | |
| ENST00000342175.11:c.32222T>C (TTN) | ENSP00000340554.6:p.Ile10741Thr | |
| ENST00000359218.10:c.32021T>C (TTN) | ENSP00000352154.5:p.Ile10674Thr | |
| ENST00000342175.10:c.32222T>C (TTN) | ENSP00000340554.6:p.Ile10741Thr | |
| ENST00000342992.10:c.51137T>C (TTN) | ENSP00000343764.6:p.Ile17046Thr | |
| ENST00000359218.9:c.32021T>C (TTN) | ENSP00000352154.5:p.Ile10674Thr | |
| ENST00000460472.6:c.31646T>C (TTN) | ENSP00000434586.1:p.Ile10549Thr | |
| ENST00000589042.5:c.58841T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile19614Thr | |
| ENST00000591111.5:c.53918T>C (TTN) | ENSP00000465570.1:p.Ile17973Thr | |
| ENST00000615779.4:c.53918T>C (TTN) | ENSP00000483597.1:p.Ile17973Thr | |
| NM_001256850.1:c.53918T>C (TTN) | NP_001243779.1:p.Ile17973Thr | |
| NM_001267550.2:c.58841T>C (TTN) MANE Select | NP_001254479.2:p.Ile19614Thr | |
| NM_003319.4:c.31646T>C (TTN) | NP_003310.4:p.Ile10549Thr | |
| NM_133378.4:c.51137T>C (TTN) | NP_596869.4:p.Ile17046Thr | |
| NM_133432.3:c.32021T>C (TTN) | NP_597676.3:p.Ile10674Thr | |
| NM_133437.4:c.32222T>C (TTN) | NP_597681.4:p.Ile10741Thr | |
| NR_038271.1:n.597-4229A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2053A>G (TTN-AS1) | ||
| XM_011511729.1:c.57938T>C (TTN) | XP_011510031.1:p.Ile19313Thr | |
| XM_011511730.1:c.31832T>C (TTN) | XP_011510032.1:p.Ile10611Thr | |
| XM_011511731.1:c.31691T>C (TTN) | XP_011510033.1:p.Ile10564Thr | |
| XM_017004819.1:c.57734T>C (TTN) | XP_016860308.1:p.Ile19245Thr | |
| XM_017004820.1:c.53132T>C (TTN) | XP_016860309.1:p.Ile17711Thr | |
| XM_017004821.1:c.53129T>C (TTN) | XP_016860310.1:p.Ile17710Thr | |
| XM_017004822.1:c.50171T>C (TTN) | XP_016860311.1:p.Ile16724Thr | |
| XM_017004823.1:c.31787T>C (TTN) | XP_016860312.1:p.Ile10596Thr | |
| XM_024453094.1:c.53282T>C (TTN) | XP_024308862.1:p.Ile17761Thr | |
| XM_024453095.1:c.53279T>C (TTN) | XP_024308863.1:p.Ile17760Thr | |
| XM_024453096.1:c.52712T>C (TTN) | XP_024308864.1:p.Ile17571Thr | |
| XM_024453097.1:c.50054T>C (TTN) | XP_024308865.1:p.Ile16685Thr | |
| XM_024453098.1:c.49973T>C (TTN) | XP_024308866.1:p.Ile16658Thr | |
| XM_024453099.1:c.31736T>C (TTN) | XP_024308867.1:p.Ile10579Thr | |
| XM_024453100.1:c.21590T>C (TTN) | XP_024308868.1:p.Ile7197Thr |