Linked Data
ClinVar Variation Id:
47241
ClinVar RCV Id:
RCV000040511
RCV000268502
RCV000299974
RCV000303421
RCV000338417
RCV000404862
RCV000360455
RCV000465995
RCV002371843
RCV003149654
RCV003389730
dbSNP Id:
rs371802557
ExAC:
2:179446293 G / A
gnomAD v2:
2-179446293-G-A
gnomAD v3:
2-178581566-G-A
gnomAD v4:
2-178581566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581566G>A , CM000664.2:g.178581566G>A | GRCh38 |
| NC_000002.11:g.179446293G>A , CM000664.1:g.179446293G>A | GRCh37 |
| NC_000002.10:g.179154539G>A | NCBI36 |
| NG_011618.3:g.254237C>T , LRG_391:g.254237C>T | |
| NG_051363.1:g.63740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58998C>T (TTN) | ENSP00000343764.6:p.Ala19666= | |
| ENST00000342175.11:c.40083C>T (TTN) | ENSP00000340554.6:p.Ala13361= | |
| ENST00000359218.10:c.39882C>T (TTN) | ENSP00000352154.5:p.Ala13294= | |
| ENST00000342175.10:c.40083C>T (TTN) | ENSP00000340554.6:p.Ala13361= | |
| ENST00000342992.10:c.58998C>T (TTN) | ENSP00000343764.6:p.Ala19666= | |
| ENST00000359218.9:c.39882C>T (TTN) | ENSP00000352154.5:p.Ala13294= | |
| ENST00000460472.6:c.39507C>T (TTN) | ENSP00000434586.1:p.Ala13169= | |
| ENST00000589042.5:c.66702C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala22234= | |
| ENST00000591111.5:c.61779C>T (TTN) | ENSP00000465570.1:p.Ala20593= | |
| ENST00000615779.4:c.61779C>T (TTN) | ENSP00000483597.1:p.Ala20593= | |
| NM_001256850.1:c.61779C>T (TTN) | NP_001243779.1:p.Ala20593= | |
| NM_001267550.2:c.66702C>T (TTN) MANE Select | NP_001254479.2:p.Ala22234= | |
| NM_003319.4:c.39507C>T (TTN) | NP_003310.4:p.Ala13169= | |
| NM_133378.4:c.58998C>T (TTN) | NP_596869.4:p.Ala19666= | |
| NM_133432.3:c.39882C>T (TTN) | NP_597676.3:p.Ala13294= | |
| NM_133437.4:c.40083C>T (TTN) | NP_597681.4:p.Ala13361= | |
| NR_038271.1:n.596+10117G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-1006G>A (TTN-AS1) | ||
| XM_011511729.1:c.65799C>T (TTN) | XP_011510031.1:p.Ala21933= | |
| XM_011511730.1:c.39693C>T (TTN) | XP_011510032.1:p.Ala13231= | |
| XM_011511731.1:c.39552C>T (TTN) | XP_011510033.1:p.Ala13184= | |
| XM_017004819.1:c.65595C>T (TTN) | XP_016860308.1:p.Ala21865= | |
| XM_017004820.1:c.60993C>T (TTN) | XP_016860309.1:p.Ala20331= | |
| XM_017004821.1:c.60990C>T (TTN) | XP_016860310.1:p.Ala20330= | |
| XM_017004822.1:c.58032C>T (TTN) | XP_016860311.1:p.Ala19344= | |
| XM_017004823.1:c.39648C>T (TTN) | XP_016860312.1:p.Ala13216= | |
| XM_024453094.1:c.61143C>T (TTN) | XP_024308862.1:p.Ala20381= | |
| XM_024453095.1:c.61140C>T (TTN) | XP_024308863.1:p.Ala20380= | |
| XM_024453096.1:c.60573C>T (TTN) | XP_024308864.1:p.Ala20191= | |
| XM_024453097.1:c.57915C>T (TTN) | XP_024308865.1:p.Ala19305= | |
| XM_024453098.1:c.57834C>T (TTN) | XP_024308866.1:p.Ala19278= | |
| XM_024453099.1:c.39597C>T (TTN) | XP_024308867.1:p.Ala13199= | |
| XM_024453100.1:c.29451C>T (TTN) | XP_024308868.1:p.Ala9817= |