Linked Data
ClinVar Variation Id:
512905
dbSNP Id:
rs373486593
gnomAD v3:
2-178530835-G-A
gnomAD v4:
2-178530835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530835G>A , CM000664.2:g.178530835G>A | GRCh38 |
| NC_000002.11:g.179395562G>A , CM000664.1:g.179395562G>A | GRCh37 |
| NC_000002.10:g.179103808G>A | NCBI36 |
| NG_011618.3:g.304968C>T , LRG_391:g.304968C>T | |
| NG_051363.1:g.13009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98076C>T (TTN) | ENSP00000343764.6:p.His32692= | |
| ENST00000342175.11:c.79161C>T (TTN) | ENSP00000340554.6:p.His26387= | |
| ENST00000359218.10:c.78960C>T (TTN) | ENSP00000352154.5:p.His26320= | |
| ENST00000342175.10:c.79161C>T (TTN) | ENSP00000340554.6:p.His26387= | |
| ENST00000342992.10:c.98076C>T (TTN) | ENSP00000343764.6:p.His32692= | |
| ENST00000359218.9:c.78960C>T (TTN) | ENSP00000352154.5:p.His26320= | |
| ENST00000460472.6:c.78585C>T (TTN) | ENSP00000434586.1:p.His26195= | |
| ENST00000589042.5:c.105780C>T (TTN) MANE Select | ENSP00000467141.1:p.His35260= | |
| ENST00000591111.5:c.100857C>T (TTN) | ENSP00000465570.1:p.His33619= | |
| ENST00000615779.4:c.100857C>T (TTN) | ENSP00000483597.1:p.His33619= | |
| NM_001256850.1:c.100857C>T (TTN) | NP_001243779.1:p.His33619= | |
| NM_001267550.2:c.105780C>T (TTN) MANE Select | NP_001254479.2:p.His35260= | |
| NM_003319.4:c.78585C>T (TTN) | NP_003310.4:p.His26195= | |
| NM_133378.4:c.98076C>T (TTN) | NP_596869.4:p.His32692= | |
| NM_133432.3:c.78960C>T (TTN) | NP_597676.3:p.His26320= | |
| NM_133437.4:c.79161C>T (TTN) | NP_597681.4:p.His26387= | |
| NR_038271.1:n.446+7199G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4897G>A (TTN-AS1) | ||
| XM_011511729.1:c.104877C>T (TTN) | XP_011510031.1:p.His34959= | |
| XM_011511730.1:c.78771C>T (TTN) | XP_011510032.1:p.His26257= | |
| XM_011511731.1:c.78630C>T (TTN) | XP_011510033.1:p.His26210= | |
| XM_017004819.1:c.104673C>T (TTN) | XP_016860308.1:p.His34891= | |
| XM_017004820.1:c.100071C>T (TTN) | XP_016860309.1:p.His33357= | |
| XM_017004821.1:c.100068C>T (TTN) | XP_016860310.1:p.His33356= | |
| XM_017004822.1:c.97110C>T (TTN) | XP_016860311.1:p.His32370= | |
| XM_017004823.1:c.78726C>T (TTN) | XP_016860312.1:p.His26242= | |
| XM_024453094.1:c.100221C>T (TTN) | XP_024308862.1:p.His33407= | |
| XM_024453095.1:c.100218C>T (TTN) | XP_024308863.1:p.His33406= | |
| XM_024453096.1:c.99651C>T (TTN) | XP_024308864.1:p.His33217= | |
| XM_024453097.1:c.96993C>T (TTN) | XP_024308865.1:p.His32331= | |
| XM_024453098.1:c.96912C>T (TTN) | XP_024308866.1:p.His32304= | |
| XM_024453099.1:c.78675C>T (TTN) | XP_024308867.1:p.His26225= | |
| XM_024453100.1:c.68529C>T (TTN) | XP_024308868.1:p.His22843= |