Linked Data
ClinVar Variation Id:
47568
ClinVar RCV Id:
RCV000040837
RCV000272185
RCV000307689
RCV000362345
RCV000367993
RCV000621254
RCV000327286
RCV001086829
RCV000724900
dbSNP Id:
rs369626133
ExAC:
2:179408619 T / C
gnomAD v2:
2-179408619-T-C
gnomAD v3:
2-178543892-T-C
gnomAD v4:
2-178543892-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543892T>C , CM000664.2:g.178543892T>C | GRCh38 |
| NC_000002.11:g.179408619T>C , CM000664.1:g.179408619T>C | GRCh37 |
| NC_000002.10:g.179116865T>C | NCBI36 |
| NG_011618.3:g.291911A>G , LRG_391:g.291911A>G | |
| NG_051363.1:g.26066T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88548A>G (TTN) | ENSP00000343764.6:p.Thr29516= | |
| ENST00000342175.11:c.69633A>G (TTN) | ENSP00000340554.6:p.Thr23211= | |
| ENST00000359218.10:c.69432A>G (TTN) | ENSP00000352154.5:p.Thr23144= | |
| ENST00000342175.10:c.69633A>G (TTN) | ENSP00000340554.6:p.Thr23211= | |
| ENST00000342992.10:c.88548A>G (TTN) | ENSP00000343764.6:p.Thr29516= | |
| ENST00000359218.9:c.69432A>G (TTN) | ENSP00000352154.5:p.Thr23144= | |
| ENST00000460472.6:c.69057A>G (TTN) | ENSP00000434586.1:p.Thr23019= | |
| ENST00000589042.5:c.96252A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr32084= | |
| ENST00000591111.5:c.91329A>G (TTN) | ENSP00000465570.1:p.Thr30443= | |
| ENST00000615779.4:c.91329A>G (TTN) | ENSP00000483597.1:p.Thr30443= | |
| NM_001256850.1:c.91329A>G (TTN) | NP_001243779.1:p.Thr30443= | |
| NM_001267550.2:c.96252A>G (TTN) MANE Select | NP_001254479.2:p.Thr32084= | |
| NM_003319.4:c.69057A>G (TTN) | NP_003310.4:p.Thr23019= | |
| NM_133378.4:c.88548A>G (TTN) | NP_596869.4:p.Thr29516= | |
| NM_133432.3:c.69432A>G (TTN) | NP_597676.3:p.Thr23144= | |
| NM_133437.4:c.69633A>G (TTN) | NP_597681.4:p.Thr23211= | |
| NR_038271.1:n.446+20256T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1531T>C (TTN-AS1) | ||
| XM_011511729.1:c.95349A>G (TTN) | XP_011510031.1:p.Thr31783= | |
| XM_011511730.1:c.69243A>G (TTN) | XP_011510032.1:p.Thr23081= | |
| XM_011511731.1:c.69102A>G (TTN) | XP_011510033.1:p.Thr23034= | |
| XM_017004819.1:c.95145A>G (TTN) | XP_016860308.1:p.Thr31715= | |
| XM_017004820.1:c.90543A>G (TTN) | XP_016860309.1:p.Thr30181= | |
| XM_017004821.1:c.90540A>G (TTN) | XP_016860310.1:p.Thr30180= | |
| XM_017004822.1:c.87582A>G (TTN) | XP_016860311.1:p.Thr29194= | |
| XM_017004823.1:c.69198A>G (TTN) | XP_016860312.1:p.Thr23066= | |
| XM_024453094.1:c.90693A>G (TTN) | XP_024308862.1:p.Thr30231= | |
| XM_024453095.1:c.90690A>G (TTN) | XP_024308863.1:p.Thr30230= | |
| XM_024453096.1:c.90123A>G (TTN) | XP_024308864.1:p.Thr30041= | |
| XM_024453097.1:c.87465A>G (TTN) | XP_024308865.1:p.Thr29155= | |
| XM_024453098.1:c.87384A>G (TTN) | XP_024308866.1:p.Thr29128= | |
| XM_024453099.1:c.69147A>G (TTN) | XP_024308867.1:p.Thr23049= | |
| XM_024453100.1:c.59001A>G (TTN) | XP_024308868.1:p.Thr19667= |