Linked Data
ClinVar Variation Id:
47414
ClinVar RCV Id:
RCV000040684
RCV000082434
RCV000277428
RCV000280746
RCV000316062
RCV000369656
RCV000373068
RCV000620318
RCV000852805
RCV001082278
RCV001798183
dbSNP Id:
rs56264840
ExAC:
2:179428299 G / T
gnomAD v2:
2-179428299-G-T
gnomAD v3:
2-178563572-G-T
gnomAD v4:
2-178563572-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563572G>T , CM000664.2:g.178563572G>T | GRCh38 |
| NC_000002.11:g.179428299G>T , CM000664.1:g.179428299G>T | GRCh37 |
| NC_000002.10:g.179136545G>T | NCBI36 |
| NG_011618.3:g.272231C>A , LRG_391:g.272231C>A | |
| NG_051363.1:g.45746G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74856C>A (TTN) | ENSP00000343764.6:p.Asn24952Lys | |
| ENST00000342175.11:c.55941C>A (TTN) | ENSP00000340554.6:p.Asn18647Lys | |
| ENST00000359218.10:c.55740C>A (TTN) | ENSP00000352154.5:p.Asn18580Lys | |
| ENST00000342175.10:c.55941C>A (TTN) | ENSP00000340554.6:p.Asn18647Lys | |
| ENST00000342992.10:c.74856C>A (TTN) | ENSP00000343764.6:p.Asn24952Lys | |
| ENST00000359218.9:c.55740C>A (TTN) | ENSP00000352154.5:p.Asn18580Lys | |
| ENST00000460472.6:c.55365C>A (TTN) | ENSP00000434586.1:p.Asn18455Lys | |
| ENST00000589042.5:c.82560C>A (TTN) MANE Select | ENSP00000467141.1:p.Asn27520Lys | |
| ENST00000591111.5:c.77637C>A (TTN) | ENSP00000465570.1:p.Asn25879Lys | |
| ENST00000615779.4:c.77637C>A (TTN) | ENSP00000483597.1:p.Asn25879Lys | |
| NM_001256850.1:c.77637C>A (TTN) | NP_001243779.1:p.Asn25879Lys | |
| NM_001267550.2:c.82560C>A (TTN) MANE Select | NP_001254479.2:p.Asn27520Lys | |
| NM_003319.4:c.55365C>A (TTN) | NP_003310.4:p.Asn18455Lys | |
| NM_133378.4:c.74856C>A (TTN) | NP_596869.4:p.Asn24952Lys | |
| NM_133432.3:c.55740C>A (TTN) | NP_597676.3:p.Asn18580Lys | |
| NM_133437.4:c.55941C>A (TTN) | NP_597681.4:p.Asn18647Lys | |
| NR_038271.1:n.447-7728G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19000G>T (TTN-AS1) | ||
| XM_011511729.1:c.81657C>A (TTN) | XP_011510031.1:p.Asn27219Lys | |
| XM_011511730.1:c.55551C>A (TTN) | XP_011510032.1:p.Asn18517Lys | |
| XM_011511731.1:c.55410C>A (TTN) | XP_011510033.1:p.Asn18470Lys | |
| XM_017004819.1:c.81453C>A (TTN) | XP_016860308.1:p.Asn27151Lys | |
| XM_017004820.1:c.76851C>A (TTN) | XP_016860309.1:p.Asn25617Lys | |
| XM_017004821.1:c.76848C>A (TTN) | XP_016860310.1:p.Asn25616Lys | |
| XM_017004822.1:c.73890C>A (TTN) | XP_016860311.1:p.Asn24630Lys | |
| XM_017004823.1:c.55506C>A (TTN) | XP_016860312.1:p.Asn18502Lys | |
| XM_024453094.1:c.77001C>A (TTN) | XP_024308862.1:p.Asn25667Lys | |
| XM_024453095.1:c.76998C>A (TTN) | XP_024308863.1:p.Asn25666Lys | |
| XM_024453096.1:c.76431C>A (TTN) | XP_024308864.1:p.Asn25477Lys | |
| XM_024453097.1:c.73773C>A (TTN) | XP_024308865.1:p.Asn24591Lys | |
| XM_024453098.1:c.73692C>A (TTN) | XP_024308866.1:p.Asn24564Lys | |
| XM_024453099.1:c.55455C>A (TTN) | XP_024308867.1:p.Asn18485Lys | |
| XM_024453100.1:c.45309C>A (TTN) | XP_024308868.1:p.Asn15103Lys |