Linked Data
ClinVar Variation Id:
263730
dbSNP Id:
rs72646887
ExAC:
2:179440599 C / T
gnomAD v2:
2-179440599-C-T
gnomAD v3:
2-178575872-C-T
gnomAD v4:
2-178575872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575872C>T , CM000664.2:g.178575872C>T | GRCh38 |
| NC_000002.11:g.179440599C>T , CM000664.1:g.179440599C>T | GRCh37 |
| NC_000002.10:g.179148845C>T | NCBI36 |
| NG_011618.3:g.259931G>A , LRG_391:g.259931G>A | |
| NG_051363.1:g.58046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62556G>A (TTN) | ENSP00000343764.6:p.Pro20852= | |
| ENST00000342175.11:c.43641G>A (TTN) | ENSP00000340554.6:p.Pro14547= | |
| ENST00000359218.10:c.43440G>A (TTN) | ENSP00000352154.5:p.Pro14480= | |
| ENST00000342175.10:c.43641G>A (TTN) | ENSP00000340554.6:p.Pro14547= | |
| ENST00000342992.10:c.62556G>A (TTN) | ENSP00000343764.6:p.Pro20852= | |
| ENST00000359218.9:c.43440G>A (TTN) | ENSP00000352154.5:p.Pro14480= | |
| ENST00000460472.6:c.43065G>A (TTN) | ENSP00000434586.1:p.Pro14355= | |
| ENST00000589042.5:c.70260G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro23420= | |
| ENST00000591111.5:c.65337G>A (TTN) | ENSP00000465570.1:p.Pro21779= | |
| ENST00000615779.4:c.65337G>A (TTN) | ENSP00000483597.1:p.Pro21779= | |
| NM_001256850.1:c.65337G>A (TTN) | NP_001243779.1:p.Pro21779= | |
| NM_001267550.2:c.70260G>A (TTN) MANE Select | NP_001254479.2:p.Pro23420= | |
| NM_003319.4:c.43065G>A (TTN) | NP_003310.4:p.Pro14355= | |
| NM_133378.4:c.62556G>A (TTN) | NP_596869.4:p.Pro20852= | |
| NM_133432.3:c.43440G>A (TTN) | NP_597676.3:p.Pro14480= | |
| NM_133437.4:c.43641G>A (TTN) | NP_597681.4:p.Pro14547= | |
| NR_038271.1:n.596+4423C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6700C>T (TTN-AS1) | ||
| XM_011511729.1:c.69357G>A (TTN) | XP_011510031.1:p.Pro23119= | |
| XM_011511730.1:c.43251G>A (TTN) | XP_011510032.1:p.Pro14417= | |
| XM_011511731.1:c.43110G>A (TTN) | XP_011510033.1:p.Pro14370= | |
| XM_017004819.1:c.69153G>A (TTN) | XP_016860308.1:p.Pro23051= | |
| XM_017004820.1:c.64551G>A (TTN) | XP_016860309.1:p.Pro21517= | |
| XM_017004821.1:c.64548G>A (TTN) | XP_016860310.1:p.Pro21516= | |
| XM_017004822.1:c.61590G>A (TTN) | XP_016860311.1:p.Pro20530= | |
| XM_017004823.1:c.43206G>A (TTN) | XP_016860312.1:p.Pro14402= | |
| XM_024453094.1:c.64701G>A (TTN) | XP_024308862.1:p.Pro21567= | |
| XM_024453095.1:c.64698G>A (TTN) | XP_024308863.1:p.Pro21566= | |
| XM_024453096.1:c.64131G>A (TTN) | XP_024308864.1:p.Pro21377= | |
| XM_024453097.1:c.61473G>A (TTN) | XP_024308865.1:p.Pro20491= | |
| XM_024453098.1:c.61392G>A (TTN) | XP_024308866.1:p.Pro20464= | |
| XM_024453099.1:c.43155G>A (TTN) | XP_024308867.1:p.Pro14385= | |
| XM_024453100.1:c.33009G>A (TTN) | XP_024308868.1:p.Pro11003= |