Linked Data
ClinVar Variation Id:
47331
ClinVar RCV Id:
RCV000040601
RCV000288129
RCV000345344
RCV000339683
RCV000397267
RCV000397257
RCV000714090
RCV001082391
RCV004541175
RCV002336147
dbSNP Id:
rs72646899
ExAC:
2:179435968 G / A
gnomAD v2:
2-179435968-G-A
gnomAD v3:
2-178571241-G-A
gnomAD v4:
2-178571241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571241G>A , CM000664.2:g.178571241G>A | GRCh38 |
| NC_000002.11:g.179435968G>A , CM000664.1:g.179435968G>A | GRCh37 |
| NC_000002.10:g.179144214G>A | NCBI36 |
| NG_011618.3:g.264562C>T , LRG_391:g.264562C>T | |
| NG_051363.1:g.53415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67187C>T (TTN) | ENSP00000343764.6:p.Pro22396Leu | |
| ENST00000342175.11:c.48272C>T (TTN) | ENSP00000340554.6:p.Pro16091Leu | |
| ENST00000359218.10:c.48071C>T (TTN) | ENSP00000352154.5:p.Pro16024Leu | |
| ENST00000342175.10:c.48272C>T (TTN) | ENSP00000340554.6:p.Pro16091Leu | |
| ENST00000342992.10:c.67187C>T (TTN) | ENSP00000343764.6:p.Pro22396Leu | |
| ENST00000359218.9:c.48071C>T (TTN) | ENSP00000352154.5:p.Pro16024Leu | |
| ENST00000460472.6:c.47696C>T (TTN) | ENSP00000434586.1:p.Pro15899Leu | |
| ENST00000589042.5:c.74891C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro24964Leu | |
| ENST00000591111.5:c.69968C>T (TTN) | ENSP00000465570.1:p.Pro23323Leu | |
| ENST00000615779.4:c.69968C>T (TTN) | ENSP00000483597.1:p.Pro23323Leu | |
| NM_001256850.1:c.69968C>T (TTN) | NP_001243779.1:p.Pro23323Leu | |
| NM_001267550.2:c.74891C>T (TTN) MANE Select | NP_001254479.2:p.Pro24964Leu | |
| NM_003319.4:c.47696C>T (TTN) | NP_003310.4:p.Pro15899Leu | |
| NM_133378.4:c.67187C>T (TTN) | NP_596869.4:p.Pro22396Leu | |
| NM_133432.3:c.48071C>T (TTN) | NP_597676.3:p.Pro16024Leu | |
| NM_133437.4:c.48272C>T (TTN) | NP_597681.4:p.Pro16091Leu | |
| NR_038271.1:n.447-59G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11331G>A (TTN-AS1) | ||
| XM_011511729.1:c.73988C>T (TTN) | XP_011510031.1:p.Pro24663Leu | |
| XM_011511730.1:c.47882C>T (TTN) | XP_011510032.1:p.Pro15961Leu | |
| XM_011511731.1:c.47741C>T (TTN) | XP_011510033.1:p.Pro15914Leu | |
| XM_017004819.1:c.73784C>T (TTN) | XP_016860308.1:p.Pro24595Leu | |
| XM_017004820.1:c.69182C>T (TTN) | XP_016860309.1:p.Pro23061Leu | |
| XM_017004821.1:c.69179C>T (TTN) | XP_016860310.1:p.Pro23060Leu | |
| XM_017004822.1:c.66221C>T (TTN) | XP_016860311.1:p.Pro22074Leu | |
| XM_017004823.1:c.47837C>T (TTN) | XP_016860312.1:p.Pro15946Leu | |
| XM_024453094.1:c.69332C>T (TTN) | XP_024308862.1:p.Pro23111Leu | |
| XM_024453095.1:c.69329C>T (TTN) | XP_024308863.1:p.Pro23110Leu | |
| XM_024453096.1:c.68762C>T (TTN) | XP_024308864.1:p.Pro22921Leu | |
| XM_024453097.1:c.66104C>T (TTN) | XP_024308865.1:p.Pro22035Leu | |
| XM_024453098.1:c.66023C>T (TTN) | XP_024308866.1:p.Pro22008Leu | |
| XM_024453099.1:c.47786C>T (TTN) | XP_024308867.1:p.Pro15929Leu | |
| XM_024453100.1:c.37640C>T (TTN) | XP_024308868.1:p.Pro12547Leu |