Linked Data
ClinVar Variation Id:
47716
ClinVar RCV Id:
RCV000040985
RCV000233309
RCV000274938
RCV000310281
RCV000311379
RCV000398874
RCV000369768
RCV000617669
RCV001080543
RCV003149665
RCV004528227
dbSNP Id:
rs183923129
ExAC:
2:179393558 C / T
gnomAD v2:
2-179393558-C-T
gnomAD v3:
2-178528831-C-T
gnomAD v4:
2-178528831-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528831C>T , CM000664.2:g.178528831C>T | GRCh38 |
| NC_000002.11:g.179393558C>T , CM000664.1:g.179393558C>T | GRCh37 |
| NC_000002.10:g.179101804C>T | NCBI36 |
| NG_011618.3:g.306972G>A , LRG_391:g.306972G>A | |
| NG_051363.1:g.11005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99216G>A (TTN) | ENSP00000343764.6:p.Leu33072= | |
| ENST00000342175.11:c.80301G>A (TTN) | ENSP00000340554.6:p.Leu26767= | |
| ENST00000359218.10:c.80100G>A (TTN) | ENSP00000352154.5:p.Leu26700= | |
| ENST00000342175.10:c.80301G>A (TTN) | ENSP00000340554.6:p.Leu26767= | |
| ENST00000342992.10:c.99216G>A (TTN) | ENSP00000343764.6:p.Leu33072= | |
| ENST00000359218.9:c.80100G>A (TTN) | ENSP00000352154.5:p.Leu26700= | |
| ENST00000460472.6:c.79725G>A (TTN) | ENSP00000434586.1:p.Leu26575= | |
| ENST00000589042.5:c.106920G>A (TTN) MANE Select | ENSP00000467141.1:p.Leu35640= | |
| ENST00000591111.5:c.101997G>A (TTN) | ENSP00000465570.1:p.Leu33999= | |
| ENST00000615779.4:c.101997G>A (TTN) | ENSP00000483597.1:p.Leu33999= | |
| NM_001256850.1:c.101997G>A (TTN) | NP_001243779.1:p.Leu33999= | |
| NM_001267550.2:c.106920G>A (TTN) MANE Select | NP_001254479.2:p.Leu35640= | |
| NM_003319.4:c.79725G>A (TTN) | NP_003310.4:p.Leu26575= | |
| NM_133378.4:c.99216G>A (TTN) | NP_596869.4:p.Leu33072= | |
| NM_133432.3:c.80100G>A (TTN) | NP_597676.3:p.Leu26700= | |
| NM_133437.4:c.80301G>A (TTN) | NP_597681.4:p.Leu26767= | |
| NR_038271.1:n.446+5195C>T (TTN-AS1) | ||
| NR_038272.1:n.219+5195C>T (TTN-AS1) | ||
| XM_011511729.1:c.106017G>A (TTN) | XP_011510031.1:p.Leu35339= | |
| XM_011511730.1:c.79911G>A (TTN) | XP_011510032.1:p.Leu26637= | |
| XM_011511731.1:c.79770G>A (TTN) | XP_011510033.1:p.Leu26590= | |
| XM_017004819.1:c.105813G>A (TTN) | XP_016860308.1:p.Leu35271= | |
| XM_017004820.1:c.101211G>A (TTN) | XP_016860309.1:p.Leu33737= | |
| XM_017004821.1:c.101208G>A (TTN) | XP_016860310.1:p.Leu33736= | |
| XM_017004822.1:c.98250G>A (TTN) | XP_016860311.1:p.Leu32750= | |
| XM_017004823.1:c.79866G>A (TTN) | XP_016860312.1:p.Leu26622= | |
| XM_024453094.1:c.101361G>A (TTN) | XP_024308862.1:p.Leu33787= | |
| XM_024453095.1:c.101358G>A (TTN) | XP_024308863.1:p.Leu33786= | |
| XM_024453096.1:c.100791G>A (TTN) | XP_024308864.1:p.Leu33597= | |
| XM_024453097.1:c.98133G>A (TTN) | XP_024308865.1:p.Leu32711= | |
| XM_024453098.1:c.98052G>A (TTN) | XP_024308866.1:p.Leu32684= | |
| XM_024453099.1:c.79815G>A (TTN) | XP_024308867.1:p.Leu26605= | |
| XM_024453100.1:c.69669G>A (TTN) | XP_024308868.1:p.Leu23223= |