Linked Data
ClinVar Variation Id:
47268
ClinVar RCV Id:
RCV000040538
RCV000282806
RCV000307639
RCV000342426
RCV000337009
RCV000405692
RCV000463057
RCV000618829
RCV001093056
RCV001787841
RCV001293209
RCV001798175
RCV004534921
dbSNP Id:
rs72646880
ExAC:
2:179442784 C / G
gnomAD v2:
2-179442784-C-G
gnomAD v3:
2-178578057-C-G
gnomAD v4:
2-178578057-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578057C>G , CM000664.2:g.178578057C>G | GRCh38 |
| NC_000002.11:g.179442784C>G , CM000664.1:g.179442784C>G | GRCh37 |
| NC_000002.10:g.179151030C>G | NCBI36 |
| NG_011618.3:g.257746G>C , LRG_391:g.257746G>C | |
| NG_051363.1:g.60231C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60754G>C (TTN) | ENSP00000343764.6:p.Ala20252Pro | |
| ENST00000342175.11:c.41839G>C (TTN) | ENSP00000340554.6:p.Ala13947Pro | |
| ENST00000359218.10:c.41638G>C (TTN) | ENSP00000352154.5:p.Ala13880Pro | |
| ENST00000342175.10:c.41839G>C (TTN) | ENSP00000340554.6:p.Ala13947Pro | |
| ENST00000342992.10:c.60754G>C (TTN) | ENSP00000343764.6:p.Ala20252Pro | |
| ENST00000359218.9:c.41638G>C (TTN) | ENSP00000352154.5:p.Ala13880Pro | |
| ENST00000460472.6:c.41263G>C (TTN) | ENSP00000434586.1:p.Ala13755Pro | |
| ENST00000589042.5:c.68458G>C (TTN) MANE Select | ENSP00000467141.1:p.Ala22820Pro | |
| ENST00000591111.5:c.63535G>C (TTN) | ENSP00000465570.1:p.Ala21179Pro | |
| ENST00000615779.4:c.63535G>C (TTN) | ENSP00000483597.1:p.Ala21179Pro | |
| NM_001256850.1:c.63535G>C (TTN) | NP_001243779.1:p.Ala21179Pro | |
| NM_001267550.2:c.68458G>C (TTN) MANE Select | NP_001254479.2:p.Ala22820Pro | |
| NM_003319.4:c.41263G>C (TTN) | NP_003310.4:p.Ala13755Pro | |
| NM_133378.4:c.60754G>C (TTN) | NP_596869.4:p.Ala20252Pro | |
| NM_133432.3:c.41638G>C (TTN) | NP_597676.3:p.Ala13880Pro | |
| NM_133437.4:c.41839G>C (TTN) | NP_597681.4:p.Ala13947Pro | |
| NR_038271.1:n.596+6608C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-4515C>G (TTN-AS1) | ||
| XM_011511729.1:c.67555G>C (TTN) | XP_011510031.1:p.Ala22519Pro | |
| XM_011511730.1:c.41449G>C (TTN) | XP_011510032.1:p.Ala13817Pro | |
| XM_011511731.1:c.41308G>C (TTN) | XP_011510033.1:p.Ala13770Pro | |
| XM_017004819.1:c.67351G>C (TTN) | XP_016860308.1:p.Ala22451Pro | |
| XM_017004820.1:c.62749G>C (TTN) | XP_016860309.1:p.Ala20917Pro | |
| XM_017004821.1:c.62746G>C (TTN) | XP_016860310.1:p.Ala20916Pro | |
| XM_017004822.1:c.59788G>C (TTN) | XP_016860311.1:p.Ala19930Pro | |
| XM_017004823.1:c.41404G>C (TTN) | XP_016860312.1:p.Ala13802Pro | |
| XM_024453094.1:c.62899G>C (TTN) | XP_024308862.1:p.Ala20967Pro | |
| XM_024453095.1:c.62896G>C (TTN) | XP_024308863.1:p.Ala20966Pro | |
| XM_024453096.1:c.62329G>C (TTN) | XP_024308864.1:p.Ala20777Pro | |
| XM_024453097.1:c.59671G>C (TTN) | XP_024308865.1:p.Ala19891Pro | |
| XM_024453098.1:c.59590G>C (TTN) | XP_024308866.1:p.Ala19864Pro | |
| XM_024453099.1:c.41353G>C (TTN) | XP_024308867.1:p.Ala13785Pro | |
| XM_024453100.1:c.31207G>C (TTN) | XP_024308868.1:p.Ala10403Pro |