Linked Data
ClinVar Variation Id:
47593
ClinVar RCV Id:
RCV000040862
dbSNP Id:
rs397517774
ExAC:
2:179404798 G / A
gnomAD v2:
2-179404798-G-A
gnomAD v3:
2-178540071-G-A
gnomAD v4:
2-178540071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178540071G>A , CM000664.2:g.178540071G>A | GRCh38 |
| NC_000002.11:g.179404798G>A , CM000664.1:g.179404798G>A | GRCh37 |
| NC_000002.10:g.179113044G>A | NCBI36 |
| NG_011618.3:g.295732C>T , LRG_391:g.295732C>T | |
| NG_051363.1:g.22245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90391C>T (TTN) | ENSP00000343764.6:p.Leu30131Phe | |
| ENST00000342175.11:c.71476C>T (TTN) | ENSP00000340554.6:p.Leu23826Phe | |
| ENST00000359218.10:c.71275C>T (TTN) | ENSP00000352154.5:p.Leu23759Phe | |
| ENST00000342175.10:c.71476C>T (TTN) | ENSP00000340554.6:p.Leu23826Phe | |
| ENST00000342992.10:c.90391C>T (TTN) | ENSP00000343764.6:p.Leu30131Phe | |
| ENST00000359218.9:c.71275C>T (TTN) | ENSP00000352154.5:p.Leu23759Phe | |
| ENST00000460472.6:c.70900C>T (TTN) | ENSP00000434586.1:p.Leu23634Phe | |
| ENST00000589042.5:c.98095C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu32699Phe | |
| ENST00000591111.5:c.93172C>T (TTN) | ENSP00000465570.1:p.Leu31058Phe | |
| ENST00000615779.4:c.93172C>T (TTN) | ENSP00000483597.1:p.Leu31058Phe | |
| NM_001256850.1:c.93172C>T (TTN) | NP_001243779.1:p.Leu31058Phe | |
| NM_001267550.2:c.98095C>T (TTN) MANE Select | NP_001254479.2:p.Leu32699Phe | |
| NM_003319.4:c.70900C>T (TTN) | NP_003310.4:p.Leu23634Phe | |
| NM_133378.4:c.90391C>T (TTN) | NP_596869.4:p.Leu30131Phe | |
| NM_133432.3:c.71275C>T (TTN) | NP_597676.3:p.Leu23759Phe | |
| NM_133437.4:c.71476C>T (TTN) | NP_597681.4:p.Leu23826Phe | |
| NR_038271.1:n.446+16435G>A (TTN-AS1) | ||
| NR_038272.1:n.1841-36G>A (TTN-AS1) | ||
| XM_011511729.1:c.97192C>T (TTN) | XP_011510031.1:p.Leu32398Phe | |
| XM_011511730.1:c.71086C>T (TTN) | XP_011510032.1:p.Leu23696Phe | |
| XM_011511731.1:c.70945C>T (TTN) | XP_011510033.1:p.Leu23649Phe | |
| XM_017004819.1:c.96988C>T (TTN) | XP_016860308.1:p.Leu32330Phe | |
| XM_017004820.1:c.92386C>T (TTN) | XP_016860309.1:p.Leu30796Phe | |
| XM_017004821.1:c.92383C>T (TTN) | XP_016860310.1:p.Leu30795Phe | |
| XM_017004822.1:c.89425C>T (TTN) | XP_016860311.1:p.Leu29809Phe | |
| XM_017004823.1:c.71041C>T (TTN) | XP_016860312.1:p.Leu23681Phe | |
| XM_024453094.1:c.92536C>T (TTN) | XP_024308862.1:p.Leu30846Phe | |
| XM_024453095.1:c.92533C>T (TTN) | XP_024308863.1:p.Leu30845Phe | |
| XM_024453096.1:c.91966C>T (TTN) | XP_024308864.1:p.Leu30656Phe | |
| XM_024453097.1:c.89308C>T (TTN) | XP_024308865.1:p.Leu29770Phe | |
| XM_024453098.1:c.89227C>T (TTN) | XP_024308866.1:p.Leu29743Phe | |
| XM_024453099.1:c.70990C>T (TTN) | XP_024308867.1:p.Leu23664Phe | |
| XM_024453100.1:c.60844C>T (TTN) | XP_024308868.1:p.Leu20282Phe |