Linked Data
ClinVar Variation Id:
202999
ClinVar RCV Id:
RCV001136387
RCV001136384
RCV001136386
RCV001704930
RCV001136383
RCV001136385
RCV002362963
dbSNP Id:
rs780436747
ExAC:
2:179412278 C / T
gnomAD v2:
2-179412278-C-T
gnomAD v3:
2-178547551-C-T
gnomAD v4:
2-178547551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547551C>T , CM000664.2:g.178547551C>T | GRCh38 |
| NC_000002.11:g.179412278C>T , CM000664.1:g.179412278C>T | GRCh37 |
| NC_000002.10:g.179120524C>T | NCBI36 |
| NG_011618.3:g.288252G>A , LRG_391:g.288252G>A | |
| NG_051363.1:g.29725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86371G>A (TTN) | ENSP00000343764.6:p.Val28791Ile | |
| ENST00000342175.11:c.67456G>A (TTN) | ENSP00000340554.6:p.Val22486Ile | |
| ENST00000359218.10:c.67255G>A (TTN) | ENSP00000352154.5:p.Val22419Ile | |
| ENST00000342175.10:c.67456G>A (TTN) | ENSP00000340554.6:p.Val22486Ile | |
| ENST00000342992.10:c.86371G>A (TTN) | ENSP00000343764.6:p.Val28791Ile | |
| ENST00000359218.9:c.67255G>A (TTN) | ENSP00000352154.5:p.Val22419Ile | |
| ENST00000460472.6:c.66880G>A (TTN) | ENSP00000434586.1:p.Val22294Ile | |
| ENST00000589042.5:c.94075G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31359Ile | |
| ENST00000591111.5:c.89152G>A (TTN) | ENSP00000465570.1:p.Val29718Ile | |
| ENST00000615779.4:c.89152G>A (TTN) | ENSP00000483597.1:p.Val29718Ile | |
| NM_001256850.1:c.89152G>A (TTN) | NP_001243779.1:p.Val29718Ile | |
| NM_001267550.2:c.94075G>A (TTN) MANE Select | NP_001254479.2:p.Val31359Ile | |
| NM_003319.4:c.66880G>A (TTN) | NP_003310.4:p.Val22294Ile | |
| NM_133378.4:c.86371G>A (TTN) | NP_596869.4:p.Val28791Ile | |
| NM_133432.3:c.67255G>A (TTN) | NP_597676.3:p.Val22419Ile | |
| NM_133437.4:c.67456G>A (TTN) | NP_597681.4:p.Val22486Ile | |
| NR_038271.1:n.447-23749C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+5190C>T (TTN-AS1) | ||
| XM_011511729.1:c.93172G>A (TTN) | XP_011510031.1:p.Val31058Ile | |
| XM_011511730.1:c.67066G>A (TTN) | XP_011510032.1:p.Val22356Ile | |
| XM_011511731.1:c.66925G>A (TTN) | XP_011510033.1:p.Val22309Ile | |
| XM_017004819.1:c.92968G>A (TTN) | XP_016860308.1:p.Val30990Ile | |
| XM_017004820.1:c.88366G>A (TTN) | XP_016860309.1:p.Val29456Ile | |
| XM_017004821.1:c.88363G>A (TTN) | XP_016860310.1:p.Val29455Ile | |
| XM_017004822.1:c.85405G>A (TTN) | XP_016860311.1:p.Val28469Ile | |
| XM_017004823.1:c.67021G>A (TTN) | XP_016860312.1:p.Val22341Ile | |
| XM_024453094.1:c.88516G>A (TTN) | XP_024308862.1:p.Val29506Ile | |
| XM_024453095.1:c.88513G>A (TTN) | XP_024308863.1:p.Val29505Ile | |
| XM_024453096.1:c.87946G>A (TTN) | XP_024308864.1:p.Val29316Ile | |
| XM_024453097.1:c.85288G>A (TTN) | XP_024308865.1:p.Val28430Ile | |
| XM_024453098.1:c.85207G>A (TTN) | XP_024308866.1:p.Val28403Ile | |
| XM_024453099.1:c.66970G>A (TTN) | XP_024308867.1:p.Val22324Ile | |
| XM_024453100.1:c.56824G>A (TTN) | XP_024308868.1:p.Val18942Ile |