Linked Data
ClinVar Variation Id:
238701
ClinVar RCV Id:
RCV000230970
RCV000828909
RCV001135939
RCV001135941
RCV001135943
RCV001135940
RCV001135942
dbSNP Id:
rs769369764
ExAC:
2:179393398 G / C
gnomAD v2:
2-179393398-G-C
gnomAD v3:
2-178528671-G-C
gnomAD v4:
2-178528671-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528671G>C , CM000664.2:g.178528671G>C | GRCh38 |
| NC_000002.11:g.179393398G>C , CM000664.1:g.179393398G>C | GRCh37 |
| NC_000002.10:g.179101644G>C | NCBI36 |
| NG_011618.3:g.307132C>G , LRG_391:g.307132C>G | |
| NG_051363.1:g.10845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99376C>G (TTN) | ENSP00000343764.6:p.Leu33126Val | |
| ENST00000342175.11:c.80461C>G (TTN) | ENSP00000340554.6:p.Leu26821Val | |
| ENST00000359218.10:c.80260C>G (TTN) | ENSP00000352154.5:p.Leu26754Val | |
| ENST00000342175.10:c.80461C>G (TTN) | ENSP00000340554.6:p.Leu26821Val | |
| ENST00000342992.10:c.99376C>G (TTN) | ENSP00000343764.6:p.Leu33126Val | |
| ENST00000359218.9:c.80260C>G (TTN) | ENSP00000352154.5:p.Leu26754Val | |
| ENST00000460472.6:c.79885C>G (TTN) | ENSP00000434586.1:p.Leu26629Val | |
| ENST00000589042.5:c.107080C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu35694Val | |
| ENST00000591111.5:c.102157C>G (TTN) | ENSP00000465570.1:p.Leu34053Val | |
| ENST00000615779.4:c.102157C>G (TTN) | ENSP00000483597.1:p.Leu34053Val | |
| NM_001256850.1:c.102157C>G (TTN) | NP_001243779.1:p.Leu34053Val | |
| NM_001267550.2:c.107080C>G (TTN) MANE Select | NP_001254479.2:p.Leu35694Val | |
| NM_003319.4:c.79885C>G (TTN) | NP_003310.4:p.Leu26629Val | |
| NM_133378.4:c.99376C>G (TTN) | NP_596869.4:p.Leu33126Val | |
| NM_133432.3:c.80260C>G (TTN) | NP_597676.3:p.Leu26754Val | |
| NM_133437.4:c.80461C>G (TTN) | NP_597681.4:p.Leu26821Val | |
| NR_038271.1:n.446+5035G>C (TTN-AS1) | ||
| NR_038272.1:n.219+5035G>C (TTN-AS1) | ||
| XM_011511729.1:c.106177C>G (TTN) | XP_011510031.1:p.Leu35393Val | |
| XM_011511730.1:c.80071C>G (TTN) | XP_011510032.1:p.Leu26691Val | |
| XM_011511731.1:c.79930C>G (TTN) | XP_011510033.1:p.Leu26644Val | |
| XM_017004819.1:c.105973C>G (TTN) | XP_016860308.1:p.Leu35325Val | |
| XM_017004820.1:c.101371C>G (TTN) | XP_016860309.1:p.Leu33791Val | |
| XM_017004821.1:c.101368C>G (TTN) | XP_016860310.1:p.Leu33790Val | |
| XM_017004822.1:c.98410C>G (TTN) | XP_016860311.1:p.Leu32804Val | |
| XM_017004823.1:c.80026C>G (TTN) | XP_016860312.1:p.Leu26676Val | |
| XM_024453094.1:c.101521C>G (TTN) | XP_024308862.1:p.Leu33841Val | |
| XM_024453095.1:c.101518C>G (TTN) | XP_024308863.1:p.Leu33840Val | |
| XM_024453096.1:c.100951C>G (TTN) | XP_024308864.1:p.Leu33651Val | |
| XM_024453097.1:c.98293C>G (TTN) | XP_024308865.1:p.Leu32765Val | |
| XM_024453098.1:c.98212C>G (TTN) | XP_024308866.1:p.Leu32738Val | |
| XM_024453099.1:c.79975C>G (TTN) | XP_024308867.1:p.Leu26659Val | |
| XM_024453100.1:c.69829C>G (TTN) | XP_024308868.1:p.Leu23277Val |