Linked Data
ClinVar Variation Id:
167771
dbSNP Id:
rs727504187
ExAC:
2:179438307 G / A
gnomAD v2:
2-179438307-G-A
gnomAD v3:
2-178573580-G-A
gnomAD v4:
2-178573580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573580G>A , CM000664.2:g.178573580G>A | GRCh38 |
| NC_000002.11:g.179438307G>A , CM000664.1:g.179438307G>A | GRCh37 |
| NC_000002.10:g.179146553G>A | NCBI36 |
| NG_011618.3:g.262223C>T , LRG_391:g.262223C>T | |
| NG_051363.1:g.55754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64848C>T (TTN) | ENSP00000343764.6:p.Val21616= | |
| ENST00000342175.11:c.45933C>T (TTN) | ENSP00000340554.6:p.Val15311= | |
| ENST00000359218.10:c.45732C>T (TTN) | ENSP00000352154.5:p.Val15244= | |
| ENST00000342175.10:c.45933C>T (TTN) | ENSP00000340554.6:p.Val15311= | |
| ENST00000342992.10:c.64848C>T (TTN) | ENSP00000343764.6:p.Val21616= | |
| ENST00000359218.9:c.45732C>T (TTN) | ENSP00000352154.5:p.Val15244= | |
| ENST00000460472.6:c.45357C>T (TTN) | ENSP00000434586.1:p.Val15119= | |
| ENST00000589042.5:c.72552C>T (TTN) MANE Select | ENSP00000467141.1:p.Val24184= | |
| ENST00000591111.5:c.67629C>T (TTN) | ENSP00000465570.1:p.Val22543= | |
| ENST00000615779.4:c.67629C>T (TTN) | ENSP00000483597.1:p.Val22543= | |
| NM_001256850.1:c.67629C>T (TTN) | NP_001243779.1:p.Val22543= | |
| NM_001267550.2:c.72552C>T (TTN) MANE Select | NP_001254479.2:p.Val24184= | |
| NM_003319.4:c.45357C>T (TTN) | NP_003310.4:p.Val15119= | |
| NM_133378.4:c.64848C>T (TTN) | NP_596869.4:p.Val21616= | |
| NM_133432.3:c.45732C>T (TTN) | NP_597676.3:p.Val15244= | |
| NM_133437.4:c.45933C>T (TTN) | NP_597681.4:p.Val15311= | |
| NR_038271.1:n.596+2131G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-8992G>A (TTN-AS1) | ||
| XM_011511729.1:c.71649C>T (TTN) | XP_011510031.1:p.Val23883= | |
| XM_011511730.1:c.45543C>T (TTN) | XP_011510032.1:p.Val15181= | |
| XM_011511731.1:c.45402C>T (TTN) | XP_011510033.1:p.Val15134= | |
| XM_017004819.1:c.71445C>T (TTN) | XP_016860308.1:p.Val23815= | |
| XM_017004820.1:c.66843C>T (TTN) | XP_016860309.1:p.Val22281= | |
| XM_017004821.1:c.66840C>T (TTN) | XP_016860310.1:p.Val22280= | |
| XM_017004822.1:c.63882C>T (TTN) | XP_016860311.1:p.Val21294= | |
| XM_017004823.1:c.45498C>T (TTN) | XP_016860312.1:p.Val15166= | |
| XM_024453094.1:c.66993C>T (TTN) | XP_024308862.1:p.Val22331= | |
| XM_024453095.1:c.66990C>T (TTN) | XP_024308863.1:p.Val22330= | |
| XM_024453096.1:c.66423C>T (TTN) | XP_024308864.1:p.Val22141= | |
| XM_024453097.1:c.63765C>T (TTN) | XP_024308865.1:p.Val21255= | |
| XM_024453098.1:c.63684C>T (TTN) | XP_024308866.1:p.Val21228= | |
| XM_024453099.1:c.45447C>T (TTN) | XP_024308867.1:p.Val15149= | |
| XM_024453100.1:c.35301C>T (TTN) | XP_024308868.1:p.Val11767= |