Linked Data
ClinVar Variation Id:
196196
ClinVar RCV Id:
RCV000375971
RCV000388603
RCV000464293
RCV000273519
RCV000617391
RCV000219446
RCV000316543
RCV000334102
RCV000725268
RCV003150052
RCV003319185
dbSNP Id:
rs200540781
ExAC:
2:179408636 C / T
gnomAD v2:
2-179408636-C-T
gnomAD v3:
2-178543909-C-T
gnomAD v4:
2-178543909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543909C>T , CM000664.2:g.178543909C>T | GRCh38 |
| NC_000002.11:g.179408636C>T , CM000664.1:g.179408636C>T | GRCh37 |
| NC_000002.10:g.179116882C>T | NCBI36 |
| NG_011618.3:g.291894G>A , LRG_391:g.291894G>A | |
| NG_051363.1:g.26083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88531G>A (TTN) | ENSP00000343764.6:p.Asp29511Asn | |
| ENST00000342175.11:c.69616G>A (TTN) | ENSP00000340554.6:p.Asp23206Asn | |
| ENST00000359218.10:c.69415G>A (TTN) | ENSP00000352154.5:p.Asp23139Asn | |
| ENST00000342175.10:c.69616G>A (TTN) | ENSP00000340554.6:p.Asp23206Asn | |
| ENST00000342992.10:c.88531G>A (TTN) | ENSP00000343764.6:p.Asp29511Asn | |
| ENST00000359218.9:c.69415G>A (TTN) | ENSP00000352154.5:p.Asp23139Asn | |
| ENST00000460472.6:c.69040G>A (TTN) | ENSP00000434586.1:p.Asp23014Asn | |
| ENST00000589042.5:c.96235G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp32079Asn | |
| ENST00000591111.5:c.91312G>A (TTN) | ENSP00000465570.1:p.Asp30438Asn | |
| ENST00000615779.4:c.91312G>A (TTN) | ENSP00000483597.1:p.Asp30438Asn | |
| NM_001256850.1:c.91312G>A (TTN) | NP_001243779.1:p.Asp30438Asn | |
| NM_001267550.2:c.96235G>A (TTN) MANE Select | NP_001254479.2:p.Asp32079Asn | |
| NM_003319.4:c.69040G>A (TTN) | NP_003310.4:p.Asp23014Asn | |
| NM_133378.4:c.88531G>A (TTN) | NP_596869.4:p.Asp29511Asn | |
| NM_133432.3:c.69415G>A (TTN) | NP_597676.3:p.Asp23139Asn | |
| NM_133437.4:c.69616G>A (TTN) | NP_597681.4:p.Asp23206Asn | |
| NR_038271.1:n.446+20273C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1548C>T (TTN-AS1) | ||
| XM_011511729.1:c.95332G>A (TTN) | XP_011510031.1:p.Asp31778Asn | |
| XM_011511730.1:c.69226G>A (TTN) | XP_011510032.1:p.Asp23076Asn | |
| XM_011511731.1:c.69085G>A (TTN) | XP_011510033.1:p.Asp23029Asn | |
| XM_017004819.1:c.95128G>A (TTN) | XP_016860308.1:p.Asp31710Asn | |
| XM_017004820.1:c.90526G>A (TTN) | XP_016860309.1:p.Asp30176Asn | |
| XM_017004821.1:c.90523G>A (TTN) | XP_016860310.1:p.Asp30175Asn | |
| XM_017004822.1:c.87565G>A (TTN) | XP_016860311.1:p.Asp29189Asn | |
| XM_017004823.1:c.69181G>A (TTN) | XP_016860312.1:p.Asp23061Asn | |
| XM_024453094.1:c.90676G>A (TTN) | XP_024308862.1:p.Asp30226Asn | |
| XM_024453095.1:c.90673G>A (TTN) | XP_024308863.1:p.Asp30225Asn | |
| XM_024453096.1:c.90106G>A (TTN) | XP_024308864.1:p.Asp30036Asn | |
| XM_024453097.1:c.87448G>A (TTN) | XP_024308865.1:p.Asp29150Asn | |
| XM_024453098.1:c.87367G>A (TTN) | XP_024308866.1:p.Asp29123Asn | |
| XM_024453099.1:c.69130G>A (TTN) | XP_024308867.1:p.Asp23044Asn | |
| XM_024453100.1:c.58984G>A (TTN) | XP_024308868.1:p.Asp19662Asn |