Linked Data
ClinVar Variation Id:
262338
dbSNP Id:
rs773892755
ExAC:
2:179398135 G / A
gnomAD v2:
2-179398135-G-A
gnomAD v3:
2-178533408-G-A
gnomAD v4:
2-178533408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533408G>A , CM000664.2:g.178533408G>A | GRCh38 |
| NC_000002.11:g.179398135G>A , CM000664.1:g.179398135G>A | GRCh37 |
| NC_000002.10:g.179106381G>A | NCBI36 |
| NG_011618.3:g.302395C>T , LRG_391:g.302395C>T | |
| NG_051363.1:g.15582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95503C>T (TTN) | ENSP00000343764.6:p.Leu31835= | |
| ENST00000342175.11:c.76588C>T (TTN) | ENSP00000340554.6:p.Leu25530= | |
| ENST00000359218.10:c.76387C>T (TTN) | ENSP00000352154.5:p.Leu25463= | |
| ENST00000342175.10:c.76588C>T (TTN) | ENSP00000340554.6:p.Leu25530= | |
| ENST00000342992.10:c.95503C>T (TTN) | ENSP00000343764.6:p.Leu31835= | |
| ENST00000359218.9:c.76387C>T (TTN) | ENSP00000352154.5:p.Leu25463= | |
| ENST00000460472.6:c.76012C>T (TTN) | ENSP00000434586.1:p.Leu25338= | |
| ENST00000589042.5:c.103207C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu34403= | |
| ENST00000591111.5:c.98284C>T (TTN) | ENSP00000465570.1:p.Leu32762= | |
| ENST00000615779.4:c.98284C>T (TTN) | ENSP00000483597.1:p.Leu32762= | |
| NM_001256850.1:c.98284C>T (TTN) | NP_001243779.1:p.Leu32762= | |
| NM_001267550.2:c.103207C>T (TTN) MANE Select | NP_001254479.2:p.Leu34403= | |
| NM_003319.4:c.76012C>T (TTN) | NP_003310.4:p.Leu25338= | |
| NM_133378.4:c.95503C>T (TTN) | NP_596869.4:p.Leu31835= | |
| NM_133432.3:c.76387C>T (TTN) | NP_597676.3:p.Leu25463= | |
| NM_133437.4:c.76588C>T (TTN) | NP_597681.4:p.Leu25530= | |
| NR_038271.1:n.446+9772G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2324G>A (TTN-AS1) | ||
| XM_011511729.1:c.102304C>T (TTN) | XP_011510031.1:p.Leu34102= | |
| XM_011511730.1:c.76198C>T (TTN) | XP_011510032.1:p.Leu25400= | |
| XM_011511731.1:c.76057C>T (TTN) | XP_011510033.1:p.Leu25353= | |
| XM_017004819.1:c.102100C>T (TTN) | XP_016860308.1:p.Leu34034= | |
| XM_017004820.1:c.97498C>T (TTN) | XP_016860309.1:p.Leu32500= | |
| XM_017004821.1:c.97495C>T (TTN) | XP_016860310.1:p.Leu32499= | |
| XM_017004822.1:c.94537C>T (TTN) | XP_016860311.1:p.Leu31513= | |
| XM_017004823.1:c.76153C>T (TTN) | XP_016860312.1:p.Leu25385= | |
| XM_024453094.1:c.97648C>T (TTN) | XP_024308862.1:p.Leu32550= | |
| XM_024453095.1:c.97645C>T (TTN) | XP_024308863.1:p.Leu32549= | |
| XM_024453096.1:c.97078C>T (TTN) | XP_024308864.1:p.Leu32360= | |
| XM_024453097.1:c.94420C>T (TTN) | XP_024308865.1:p.Leu31474= | |
| XM_024453098.1:c.94339C>T (TTN) | XP_024308866.1:p.Leu31447= | |
| XM_024453099.1:c.76102C>T (TTN) | XP_024308867.1:p.Leu25368= | |
| XM_024453100.1:c.65956C>T (TTN) | XP_024308868.1:p.Leu21986= |