Linked Data
ClinVar Variation Id:
47669
ClinVar RCV Id:
RCV000040938
RCV000291584
RCV000344090
RCV000292859
RCV000350073
RCV000388022
RCV000474765
RCV000618932
RCV001703917
RCV004537120
dbSNP Id:
rs190565627
ExAC:
2:179396977 C / T
gnomAD v2:
2-179396977-C-T
gnomAD v3:
2-178532250-C-T
gnomAD v4:
2-178532250-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532250C>T , CM000664.2:g.178532250C>T | GRCh38 |
| NC_000002.11:g.179396977C>T , CM000664.1:g.179396977C>T | GRCh37 |
| NC_000002.10:g.179105223C>T | NCBI36 |
| NG_011618.3:g.303553G>A , LRG_391:g.303553G>A | |
| NG_051363.1:g.14424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96661G>A (TTN) | ENSP00000343764.6:p.Glu32221Lys | |
| ENST00000342175.11:c.77746G>A (TTN) | ENSP00000340554.6:p.Glu25916Lys | |
| ENST00000359218.10:c.77545G>A (TTN) | ENSP00000352154.5:p.Glu25849Lys | |
| ENST00000342175.10:c.77746G>A (TTN) | ENSP00000340554.6:p.Glu25916Lys | |
| ENST00000342992.10:c.96661G>A (TTN) | ENSP00000343764.6:p.Glu32221Lys | |
| ENST00000359218.9:c.77545G>A (TTN) | ENSP00000352154.5:p.Glu25849Lys | |
| ENST00000460472.6:c.77170G>A (TTN) | ENSP00000434586.1:p.Glu25724Lys | |
| ENST00000589042.5:c.104365G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu34789Lys | |
| ENST00000591111.5:c.99442G>A (TTN) | ENSP00000465570.1:p.Glu33148Lys | |
| ENST00000615779.4:c.99442G>A (TTN) | ENSP00000483597.1:p.Glu33148Lys | |
| NM_001256850.1:c.99442G>A (TTN) | NP_001243779.1:p.Glu33148Lys | |
| NM_001267550.2:c.104365G>A (TTN) MANE Select | NP_001254479.2:p.Glu34789Lys | |
| NM_003319.4:c.77170G>A (TTN) | NP_003310.4:p.Glu25724Lys | |
| NM_133378.4:c.96661G>A (TTN) | NP_596869.4:p.Glu32221Lys | |
| NM_133432.3:c.77545G>A (TTN) | NP_597676.3:p.Glu25849Lys | |
| NM_133437.4:c.77746G>A (TTN) | NP_597681.4:p.Glu25916Lys | |
| NR_038271.1:n.446+8614C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3482C>T (TTN-AS1) | ||
| XM_011511729.1:c.103462G>A (TTN) | XP_011510031.1:p.Glu34488Lys | |
| XM_011511730.1:c.77356G>A (TTN) | XP_011510032.1:p.Glu25786Lys | |
| XM_011511731.1:c.77215G>A (TTN) | XP_011510033.1:p.Glu25739Lys | |
| XM_017004819.1:c.103258G>A (TTN) | XP_016860308.1:p.Glu34420Lys | |
| XM_017004820.1:c.98656G>A (TTN) | XP_016860309.1:p.Glu32886Lys | |
| XM_017004821.1:c.98653G>A (TTN) | XP_016860310.1:p.Glu32885Lys | |
| XM_017004822.1:c.95695G>A (TTN) | XP_016860311.1:p.Glu31899Lys | |
| XM_017004823.1:c.77311G>A (TTN) | XP_016860312.1:p.Glu25771Lys | |
| XM_024453094.1:c.98806G>A (TTN) | XP_024308862.1:p.Glu32936Lys | |
| XM_024453095.1:c.98803G>A (TTN) | XP_024308863.1:p.Glu32935Lys | |
| XM_024453096.1:c.98236G>A (TTN) | XP_024308864.1:p.Glu32746Lys | |
| XM_024453097.1:c.95578G>A (TTN) | XP_024308865.1:p.Glu31860Lys | |
| XM_024453098.1:c.95497G>A (TTN) | XP_024308866.1:p.Glu31833Lys | |
| XM_024453099.1:c.77260G>A (TTN) | XP_024308867.1:p.Glu25754Lys | |
| XM_024453100.1:c.67114G>A (TTN) | XP_024308868.1:p.Glu22372Lys |