Linked Data
ClinVar Variation Id:
506306
dbSNP Id:
rs755726554
ExAC:
2:179396530 G / A
gnomAD v2:
2-179396530-G-A
gnomAD v3:
2-178531803-G-A
gnomAD v4:
2-178531803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531803G>A , CM000664.2:g.178531803G>A | GRCh38 |
| NC_000002.11:g.179396530G>A , CM000664.1:g.179396530G>A | GRCh37 |
| NC_000002.10:g.179104776G>A | NCBI36 |
| NG_011618.3:g.304000C>T , LRG_391:g.304000C>T | |
| NG_051363.1:g.13977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97108C>T (TTN) | ENSP00000343764.6:p.Leu32370= | |
| ENST00000342175.11:c.78193C>T (TTN) | ENSP00000340554.6:p.Leu26065= | |
| ENST00000359218.10:c.77992C>T (TTN) | ENSP00000352154.5:p.Leu25998= | |
| ENST00000342175.10:c.78193C>T (TTN) | ENSP00000340554.6:p.Leu26065= | |
| ENST00000342992.10:c.97108C>T (TTN) | ENSP00000343764.6:p.Leu32370= | |
| ENST00000359218.9:c.77992C>T (TTN) | ENSP00000352154.5:p.Leu25998= | |
| ENST00000460472.6:c.77617C>T (TTN) | ENSP00000434586.1:p.Leu25873= | |
| ENST00000589042.5:c.104812C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu34938= | |
| ENST00000591111.5:c.99889C>T (TTN) | ENSP00000465570.1:p.Leu33297= | |
| ENST00000615779.4:c.99889C>T (TTN) | ENSP00000483597.1:p.Leu33297= | |
| NM_001256850.1:c.99889C>T (TTN) | NP_001243779.1:p.Leu33297= | |
| NM_001267550.2:c.104812C>T (TTN) MANE Select | NP_001254479.2:p.Leu34938= | |
| NM_003319.4:c.77617C>T (TTN) | NP_003310.4:p.Leu25873= | |
| NM_133378.4:c.97108C>T (TTN) | NP_596869.4:p.Leu32370= | |
| NM_133432.3:c.77992C>T (TTN) | NP_597676.3:p.Leu25998= | |
| NM_133437.4:c.78193C>T (TTN) | NP_597681.4:p.Leu26065= | |
| NR_038271.1:n.446+8167G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3929G>A (TTN-AS1) | ||
| XM_011511729.1:c.103909C>T (TTN) | XP_011510031.1:p.Leu34637= | |
| XM_011511730.1:c.77803C>T (TTN) | XP_011510032.1:p.Leu25935= | |
| XM_011511731.1:c.77662C>T (TTN) | XP_011510033.1:p.Leu25888= | |
| XM_017004819.1:c.103705C>T (TTN) | XP_016860308.1:p.Leu34569= | |
| XM_017004820.1:c.99103C>T (TTN) | XP_016860309.1:p.Leu33035= | |
| XM_017004821.1:c.99100C>T (TTN) | XP_016860310.1:p.Leu33034= | |
| XM_017004822.1:c.96142C>T (TTN) | XP_016860311.1:p.Leu32048= | |
| XM_017004823.1:c.77758C>T (TTN) | XP_016860312.1:p.Leu25920= | |
| XM_024453094.1:c.99253C>T (TTN) | XP_024308862.1:p.Leu33085= | |
| XM_024453095.1:c.99250C>T (TTN) | XP_024308863.1:p.Leu33084= | |
| XM_024453096.1:c.98683C>T (TTN) | XP_024308864.1:p.Leu32895= | |
| XM_024453097.1:c.96025C>T (TTN) | XP_024308865.1:p.Leu32009= | |
| XM_024453098.1:c.95944C>T (TTN) | XP_024308866.1:p.Leu31982= | |
| XM_024453099.1:c.77707C>T (TTN) | XP_024308867.1:p.Leu25903= | |
| XM_024453100.1:c.67561C>T (TTN) | XP_024308868.1:p.Leu22521= |