Linked Data
ClinVar Variation Id:
203026
ClinVar RCV Id:
RCV000291952
RCV000345460
RCV000398371
RCV000381427
RCV000469120
RCV000311155
RCV000346821
RCV002372136
RCV001721174
RCV001844075
RCV004537562
dbSNP Id:
rs377412567
ExAC:
2:179407236 G / A
gnomAD v2:
2-179407236-G-A
gnomAD v3:
2-178542509-G-A
gnomAD v4:
2-178542509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542509G>A , CM000664.2:g.178542509G>A | GRCh38 |
| NC_000002.11:g.179407236G>A , CM000664.1:g.179407236G>A | GRCh37 |
| NC_000002.10:g.179115482G>A | NCBI36 |
| NG_011618.3:g.293294C>T , LRG_391:g.293294C>T | |
| NG_051363.1:g.24683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89543C>T (TTN) | ENSP00000343764.6:p.Ser29848Leu | |
| ENST00000342175.11:c.70628C>T (TTN) | ENSP00000340554.6:p.Ser23543Leu | |
| ENST00000359218.10:c.70427C>T (TTN) | ENSP00000352154.5:p.Ser23476Leu | |
| ENST00000342175.10:c.70628C>T (TTN) | ENSP00000340554.6:p.Ser23543Leu | |
| ENST00000342992.10:c.89543C>T (TTN) | ENSP00000343764.6:p.Ser29848Leu | |
| ENST00000359218.9:c.70427C>T (TTN) | ENSP00000352154.5:p.Ser23476Leu | |
| ENST00000460472.6:c.70052C>T (TTN) | ENSP00000434586.1:p.Ser23351Leu | |
| ENST00000589042.5:c.97247C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser32416Leu | |
| ENST00000591111.5:c.92324C>T (TTN) | ENSP00000465570.1:p.Ser30775Leu | |
| ENST00000615779.4:c.92324C>T (TTN) | ENSP00000483597.1:p.Ser30775Leu | |
| NM_001256850.1:c.92324C>T (TTN) | NP_001243779.1:p.Ser30775Leu | |
| NM_001267550.2:c.97247C>T (TTN) MANE Select | NP_001254479.2:p.Ser32416Leu | |
| NM_003319.4:c.70052C>T (TTN) | NP_003310.4:p.Ser23351Leu | |
| NM_133378.4:c.89543C>T (TTN) | NP_596869.4:p.Ser29848Leu | |
| NM_133432.3:c.70427C>T (TTN) | NP_597676.3:p.Ser23476Leu | |
| NM_133437.4:c.70628C>T (TTN) | NP_597681.4:p.Ser23543Leu | |
| NR_038271.1:n.446+18873G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+148G>A (TTN-AS1) | ||
| XM_011511729.1:c.96344C>T (TTN) | XP_011510031.1:p.Ser32115Leu | |
| XM_011511730.1:c.70238C>T (TTN) | XP_011510032.1:p.Ser23413Leu | |
| XM_011511731.1:c.70097C>T (TTN) | XP_011510033.1:p.Ser23366Leu | |
| XM_017004819.1:c.96140C>T (TTN) | XP_016860308.1:p.Ser32047Leu | |
| XM_017004820.1:c.91538C>T (TTN) | XP_016860309.1:p.Ser30513Leu | |
| XM_017004821.1:c.91535C>T (TTN) | XP_016860310.1:p.Ser30512Leu | |
| XM_017004822.1:c.88577C>T (TTN) | XP_016860311.1:p.Ser29526Leu | |
| XM_017004823.1:c.70193C>T (TTN) | XP_016860312.1:p.Ser23398Leu | |
| XM_024453094.1:c.91688C>T (TTN) | XP_024308862.1:p.Ser30563Leu | |
| XM_024453095.1:c.91685C>T (TTN) | XP_024308863.1:p.Ser30562Leu | |
| XM_024453096.1:c.91118C>T (TTN) | XP_024308864.1:p.Ser30373Leu | |
| XM_024453097.1:c.88460C>T (TTN) | XP_024308865.1:p.Ser29487Leu | |
| XM_024453098.1:c.88379C>T (TTN) | XP_024308866.1:p.Ser29460Leu | |
| XM_024453099.1:c.70142C>T (TTN) | XP_024308867.1:p.Ser23381Leu | |
| XM_024453100.1:c.59996C>T (TTN) | XP_024308868.1:p.Ser19999Leu |