Linked Data
ClinVar Variation Id:
202650
ClinVar RCV Id:
RCV000643632
RCV000725090
RCV000620672
RCV001133067
RCV001136509
RCV001133066
RCV001136508
RCV001136510
RCV003486748
dbSNP Id:
rs370813526
ExAC:
2:179484781 C / T
gnomAD v2:
2-179484781-C-T
gnomAD v3:
2-178620054-C-T
gnomAD v4:
2-178620054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620054C>T , CM000664.2:g.178620054C>T | GRCh38 |
| NC_000002.11:g.179484781C>T , CM000664.1:g.179484781C>T | GRCh37 |
| NC_000002.10:g.179193026C>T | NCBI36 |
| NG_011618.3:g.215749G>A , LRG_391:g.215749G>A | |
| NG_051363.1:g.102228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38659G>A (TTN) | ENSP00000343764.6:p.Asp12887Asn | |
| ENST00000342175.11:c.19744G>A (TTN) | ENSP00000340554.6:p.Asp6582Asn | |
| ENST00000359218.10:c.19543G>A (TTN) | ENSP00000352154.5:p.Asp6515Asn | |
| ENST00000342175.10:c.19744G>A (TTN) | ENSP00000340554.6:p.Asp6582Asn | |
| ENST00000342992.10:c.38659G>A (TTN) | ENSP00000343764.6:p.Asp12887Asn | |
| ENST00000359218.9:c.19543G>A (TTN) | ENSP00000352154.5:p.Asp6515Asn | |
| ENST00000460472.6:c.19168G>A (TTN) | ENSP00000434586.1:p.Asp6390Asn | |
| ENST00000589042.5:c.46363G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp15455Asn | |
| ENST00000591111.5:c.41440G>A (TTN) | ENSP00000465570.1:p.Asp13814Asn | |
| ENST00000615779.4:c.41440G>A (TTN) | ENSP00000483597.1:p.Asp13814Asn | |
| NM_001256850.1:c.41440G>A (TTN) | NP_001243779.1:p.Asp13814Asn | |
| NM_001267550.2:c.46363G>A (TTN) MANE Select | NP_001254479.2:p.Asp15455Asn | |
| NM_003319.4:c.19168G>A (TTN) | NP_003310.4:p.Asp6390Asn | |
| NM_133378.4:c.38659G>A (TTN) | NP_596869.4:p.Asp12887Asn | |
| NM_133432.3:c.19543G>A (TTN) | NP_597676.3:p.Asp6515Asn | |
| NM_133437.4:c.19744G>A (TTN) | NP_597681.4:p.Asp6582Asn | |
| NR_038271.1:n.1906C>T (TTN-AS1) | ||
| XM_011511729.1:c.45460G>A (TTN) | XP_011510031.1:p.Asp15154Asn | |
| XM_011511730.1:c.19354G>A (TTN) | XP_011510032.1:p.Asp6452Asn | |
| XM_011511731.1:c.19213G>A (TTN) | XP_011510033.1:p.Asp6405Asn | |
| XM_017004819.1:c.45256G>A (TTN) | XP_016860308.1:p.Asp15086Asn | |
| XM_017004820.1:c.40654G>A (TTN) | XP_016860309.1:p.Asp13552Asn | |
| XM_017004821.1:c.40651G>A (TTN) | XP_016860310.1:p.Asp13551Asn | |
| XM_017004822.1:c.37693G>A (TTN) | XP_016860311.1:p.Asp12565Asn | |
| XM_017004823.1:c.19309G>A (TTN) | XP_016860312.1:p.Asp6437Asn | |
| XM_024453094.1:c.40804G>A (TTN) | XP_024308862.1:p.Asp13602Asn | |
| XM_024453095.1:c.40801G>A (TTN) | XP_024308863.1:p.Asp13601Asn | |
| XM_024453096.1:c.40234G>A (TTN) | XP_024308864.1:p.Asp13412Asn | |
| XM_024453097.1:c.37576G>A (TTN) | XP_024308865.1:p.Asp12526Asn | |
| XM_024453098.1:c.37495G>A (TTN) | XP_024308866.1:p.Asp12499Asn | |
| XM_024453099.1:c.19258G>A (TTN) | XP_024308867.1:p.Asp6420Asn | |
| XM_024453100.1:c.9112G>A (TTN) | XP_024308868.1:p.Asp3038Asn |