Linked Data
ClinVar Variation Id:
467574
dbSNP Id:
rs546573613
gnomAD v2:
2-179424906-T-C
gnomAD v3:
2-178560179-T-C
gnomAD v4:
2-178560179-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560179T>C , CM000664.2:g.178560179T>C | GRCh38 |
| NC_000002.11:g.179424906T>C , CM000664.1:g.179424906T>C | GRCh37 |
| NC_000002.10:g.179133152T>C | NCBI36 |
| NG_011618.3:g.275624A>G , LRG_391:g.275624A>G | |
| NG_051363.1:g.42353T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.78249A>G (TTN) | ENSP00000343764.6:p.Leu26083= | |
| ENST00000342175.11:c.59334A>G (TTN) | ENSP00000340554.6:p.Leu19778= | |
| ENST00000359218.10:c.59133A>G (TTN) | ENSP00000352154.5:p.Leu19711= | |
| ENST00000342175.10:c.59334A>G (TTN) | ENSP00000340554.6:p.Leu19778= | |
| ENST00000342992.10:c.78249A>G (TTN) | ENSP00000343764.6:p.Leu26083= | |
| ENST00000359218.9:c.59133A>G (TTN) | ENSP00000352154.5:p.Leu19711= | |
| ENST00000460472.6:c.58758A>G (TTN) | ENSP00000434586.1:p.Leu19586= | |
| ENST00000589042.5:c.85953A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu28651= | |
| ENST00000591111.5:c.81030A>G (TTN) | ENSP00000465570.1:p.Leu27010= | |
| ENST00000615779.4:c.81030A>G (TTN) | ENSP00000483597.1:p.Leu27010= | |
| NM_001256850.1:c.81030A>G (TTN) | NP_001243779.1:p.Leu27010= | |
| NM_001267550.2:c.85953A>G (TTN) MANE Select | NP_001254479.2:p.Leu28651= | |
| NM_003319.4:c.58758A>G (TTN) | NP_003310.4:p.Leu19586= | |
| NM_133378.4:c.78249A>G (TTN) | NP_596869.4:p.Leu26083= | |
| NM_133432.3:c.59133A>G (TTN) | NP_597676.3:p.Leu19711= | |
| NM_133437.4:c.59334A>G (TTN) | NP_597681.4:p.Leu19778= | |
| NR_038271.1:n.447-11121T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+17818T>C (TTN-AS1) | ||
| XM_011511729.1:c.85050A>G (TTN) | XP_011510031.1:p.Leu28350= | |
| XM_011511730.1:c.58944A>G (TTN) | XP_011510032.1:p.Leu19648= | |
| XM_011511731.1:c.58803A>G (TTN) | XP_011510033.1:p.Leu19601= | |
| XM_017004819.1:c.84846A>G (TTN) | XP_016860308.1:p.Leu28282= | |
| XM_017004820.1:c.80244A>G (TTN) | XP_016860309.1:p.Leu26748= | |
| XM_017004821.1:c.80241A>G (TTN) | XP_016860310.1:p.Leu26747= | |
| XM_017004822.1:c.77283A>G (TTN) | XP_016860311.1:p.Leu25761= | |
| XM_017004823.1:c.58899A>G (TTN) | XP_016860312.1:p.Leu19633= | |
| XM_024453094.1:c.80394A>G (TTN) | XP_024308862.1:p.Leu26798= | |
| XM_024453095.1:c.80391A>G (TTN) | XP_024308863.1:p.Leu26797= | |
| XM_024453096.1:c.79824A>G (TTN) | XP_024308864.1:p.Leu26608= | |
| XM_024453097.1:c.77166A>G (TTN) | XP_024308865.1:p.Leu25722= | |
| XM_024453098.1:c.77085A>G (TTN) | XP_024308866.1:p.Leu25695= | |
| XM_024453099.1:c.58848A>G (TTN) | XP_024308867.1:p.Leu19616= | |
| XM_024453100.1:c.48702A>G (TTN) | XP_024308868.1:p.Leu16234= |