Linked Data
ClinVar Variation Id:
202989
ClinVar RCV Id:
RCV000319148
RCV000268053
RCV000360353
RCV000377684
RCV000280857
RCV000643867
RCV001704928
RCV002271448
RCV002362960
dbSNP Id:
rs200621611
ExAC:
2:179413763 C / T
gnomAD v2:
2-179413763-C-T
gnomAD v3:
2-178549036-C-T
gnomAD v4:
2-178549036-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549036C>T , CM000664.2:g.178549036C>T | GRCh38 |
| NC_000002.11:g.179413763C>T , CM000664.1:g.179413763C>T | GRCh37 |
| NC_000002.10:g.179122009C>T | NCBI36 |
| NG_011618.3:g.286767G>A , LRG_391:g.286767G>A | |
| NG_051363.1:g.31210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84886G>A (TTN) | ENSP00000343764.6:p.Asp28296Asn | |
| ENST00000342175.11:c.65971G>A (TTN) | ENSP00000340554.6:p.Asp21991Asn | |
| ENST00000359218.10:c.65770G>A (TTN) | ENSP00000352154.5:p.Asp21924Asn | |
| ENST00000342175.10:c.65971G>A (TTN) | ENSP00000340554.6:p.Asp21991Asn | |
| ENST00000342992.10:c.84886G>A (TTN) | ENSP00000343764.6:p.Asp28296Asn | |
| ENST00000359218.9:c.65770G>A (TTN) | ENSP00000352154.5:p.Asp21924Asn | |
| ENST00000460472.6:c.65395G>A (TTN) | ENSP00000434586.1:p.Asp21799Asn | |
| ENST00000589042.5:c.92590G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp30864Asn | |
| ENST00000591111.5:c.87667G>A (TTN) | ENSP00000465570.1:p.Asp29223Asn | |
| ENST00000615779.4:c.87667G>A (TTN) | ENSP00000483597.1:p.Asp29223Asn | |
| NM_001256850.1:c.87667G>A (TTN) | NP_001243779.1:p.Asp29223Asn | |
| NM_001267550.2:c.92590G>A (TTN) MANE Select | NP_001254479.2:p.Asp30864Asn | |
| NM_003319.4:c.65395G>A (TTN) | NP_003310.4:p.Asp21799Asn | |
| NM_133378.4:c.84886G>A (TTN) | NP_596869.4:p.Asp28296Asn | |
| NM_133432.3:c.65770G>A (TTN) | NP_597676.3:p.Asp21924Asn | |
| NM_133437.4:c.65971G>A (TTN) | NP_597681.4:p.Asp21991Asn | |
| NR_038271.1:n.447-22264C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6675C>T (TTN-AS1) | ||
| XM_011511729.1:c.91687G>A (TTN) | XP_011510031.1:p.Asp30563Asn | |
| XM_011511730.1:c.65581G>A (TTN) | XP_011510032.1:p.Asp21861Asn | |
| XM_011511731.1:c.65440G>A (TTN) | XP_011510033.1:p.Asp21814Asn | |
| XM_017004819.1:c.91483G>A (TTN) | XP_016860308.1:p.Asp30495Asn | |
| XM_017004820.1:c.86881G>A (TTN) | XP_016860309.1:p.Asp28961Asn | |
| XM_017004821.1:c.86878G>A (TTN) | XP_016860310.1:p.Asp28960Asn | |
| XM_017004822.1:c.83920G>A (TTN) | XP_016860311.1:p.Asp27974Asn | |
| XM_017004823.1:c.65536G>A (TTN) | XP_016860312.1:p.Asp21846Asn | |
| XM_024453094.1:c.87031G>A (TTN) | XP_024308862.1:p.Asp29011Asn | |
| XM_024453095.1:c.87028G>A (TTN) | XP_024308863.1:p.Asp29010Asn | |
| XM_024453096.1:c.86461G>A (TTN) | XP_024308864.1:p.Asp28821Asn | |
| XM_024453097.1:c.83803G>A (TTN) | XP_024308865.1:p.Asp27935Asn | |
| XM_024453098.1:c.83722G>A (TTN) | XP_024308866.1:p.Asp27908Asn | |
| XM_024453099.1:c.65485G>A (TTN) | XP_024308867.1:p.Asp21829Asn | |
| XM_024453100.1:c.55339G>A (TTN) | XP_024308868.1:p.Asp18447Asn |