Linked Data
ClinVar Variation Id:
47097
ClinVar RCV Id:
RCV000040367
RCV000172661
RCV000260976
RCV000341213
RCV000316224
RCV000388261
RCV000375984
RCV001086441
RCV002433515
RCV001798161
RCV004528210
dbSNP Id:
rs201035511
ExAC:
2:179467311 G / A
gnomAD v2:
2-179467311-G-A
gnomAD v3:
2-178602584-G-A
gnomAD v4:
2-178602584-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602584G>A , CM000664.2:g.178602584G>A | GRCh38 |
| NC_000002.11:g.179467311G>A , CM000664.1:g.179467311G>A | GRCh37 |
| NC_000002.10:g.179175556G>A | NCBI36 |
| NG_011618.3:g.233219C>T , LRG_391:g.233219C>T | |
| NG_051363.1:g.84758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47114C>T (TTN) | ENSP00000343764.6:p.Pro15705Leu | |
| ENST00000342175.11:c.28199C>T (TTN) | ENSP00000340554.6:p.Pro9400Leu | |
| ENST00000359218.10:c.27998C>T (TTN) | ENSP00000352154.5:p.Pro9333Leu | |
| ENST00000342175.10:c.28199C>T (TTN) | ENSP00000340554.6:p.Pro9400Leu | |
| ENST00000342992.10:c.47114C>T (TTN) | ENSP00000343764.6:p.Pro15705Leu | |
| ENST00000359218.9:c.27998C>T (TTN) | ENSP00000352154.5:p.Pro9333Leu | |
| ENST00000460472.6:c.27623C>T (TTN) | ENSP00000434586.1:p.Pro9208Leu | |
| ENST00000589042.5:c.54818C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro18273Leu | |
| ENST00000591111.5:c.49895C>T (TTN) | ENSP00000465570.1:p.Pro16632Leu | |
| ENST00000615779.4:c.49895C>T (TTN) | ENSP00000483597.1:p.Pro16632Leu | |
| NM_001256850.1:c.49895C>T (TTN) | NP_001243779.1:p.Pro16632Leu | |
| NM_001267550.2:c.54818C>T (TTN) MANE Select | NP_001254479.2:p.Pro18273Leu | |
| NM_003319.4:c.27623C>T (TTN) | NP_003310.4:p.Pro9208Leu | |
| NM_133378.4:c.47114C>T (TTN) | NP_596869.4:p.Pro15705Leu | |
| NM_133432.3:c.27998C>T (TTN) | NP_597676.3:p.Pro9333Leu | |
| NM_133437.4:c.28199C>T (TTN) | NP_597681.4:p.Pro9400Leu | |
| NR_038271.1:n.682+4903G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1917G>A (TTN-AS1) | ||
| XM_011511729.1:c.53915C>T (TTN) | XP_011510031.1:p.Pro17972Leu | |
| XM_011511730.1:c.27809C>T (TTN) | XP_011510032.1:p.Pro9270Leu | |
| XM_011511731.1:c.27668C>T (TTN) | XP_011510033.1:p.Pro9223Leu | |
| XM_017004819.1:c.53711C>T (TTN) | XP_016860308.1:p.Pro17904Leu | |
| XM_017004820.1:c.49109C>T (TTN) | XP_016860309.1:p.Pro16370Leu | |
| XM_017004821.1:c.49106C>T (TTN) | XP_016860310.1:p.Pro16369Leu | |
| XM_017004822.1:c.46148C>T (TTN) | XP_016860311.1:p.Pro15383Leu | |
| XM_017004823.1:c.27764C>T (TTN) | XP_016860312.1:p.Pro9255Leu | |
| XM_024453094.1:c.49259C>T (TTN) | XP_024308862.1:p.Pro16420Leu | |
| XM_024453095.1:c.49256C>T (TTN) | XP_024308863.1:p.Pro16419Leu | |
| XM_024453096.1:c.48689C>T (TTN) | XP_024308864.1:p.Pro16230Leu | |
| XM_024453097.1:c.46031C>T (TTN) | XP_024308865.1:p.Pro15344Leu | |
| XM_024453098.1:c.45950C>T (TTN) | XP_024308866.1:p.Pro15317Leu | |
| XM_024453099.1:c.27713C>T (TTN) | XP_024308867.1:p.Pro9238Leu | |
| XM_024453100.1:c.17567C>T (TTN) | XP_024308868.1:p.Pro5856Leu |