Linked Data
ClinVar Variation Id:
178200
ClinVar RCV Id:
RCV000154931
RCV000319887
RCV000316262
RCV000293736
RCV000620398
RCV000374365
RCV000389492
RCV000725861
RCV001293206
RCV001081279
RCV004534973
dbSNP Id:
rs201662134
ExAC:
2:179448375 G / A
gnomAD v2:
2-179448375-G-A
gnomAD v3:
2-178583648-G-A
gnomAD v4:
2-178583648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583648G>A , CM000664.2:g.178583648G>A | GRCh38 |
| NC_000002.11:g.179448375G>A , CM000664.1:g.179448375G>A | GRCh37 |
| NC_000002.10:g.179156621G>A | NCBI36 |
| NG_011618.3:g.252155C>T , LRG_391:g.252155C>T | |
| NG_051363.1:g.65822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57830C>T (TTN) | ENSP00000343764.6:p.Pro19277Leu | |
| ENST00000342175.11:c.38915C>T (TTN) | ENSP00000340554.6:p.Pro12972Leu | |
| ENST00000359218.10:c.38714C>T (TTN) | ENSP00000352154.5:p.Pro12905Leu | |
| ENST00000342175.10:c.38915C>T (TTN) | ENSP00000340554.6:p.Pro12972Leu | |
| ENST00000342992.10:c.57830C>T (TTN) | ENSP00000343764.6:p.Pro19277Leu | |
| ENST00000359218.9:c.38714C>T (TTN) | ENSP00000352154.5:p.Pro12905Leu | |
| ENST00000460472.6:c.38339C>T (TTN) | ENSP00000434586.1:p.Pro12780Leu | |
| ENST00000589042.5:c.65534C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro21845Leu | |
| ENST00000591111.5:c.60611C>T (TTN) | ENSP00000465570.1:p.Pro20204Leu | |
| ENST00000615779.4:c.60611C>T (TTN) | ENSP00000483597.1:p.Pro20204Leu | |
| NM_001256850.1:c.60611C>T (TTN) | NP_001243779.1:p.Pro20204Leu | |
| NM_001267550.2:c.65534C>T (TTN) MANE Select | NP_001254479.2:p.Pro21845Leu | |
| NM_003319.4:c.38339C>T (TTN) | NP_003310.4:p.Pro12780Leu | |
| NM_133378.4:c.57830C>T (TTN) | NP_596869.4:p.Pro19277Leu | |
| NM_133432.3:c.38714C>T (TTN) | NP_597676.3:p.Pro12905Leu | |
| NM_133437.4:c.38915C>T (TTN) | NP_597681.4:p.Pro12972Leu | |
| NR_038271.1:n.596+12199G>A (TTN-AS1) | ||
| NR_038272.1:n.2494G>A (TTN-AS1) | ||
| XM_011511729.1:c.64631C>T (TTN) | XP_011510031.1:p.Pro21544Leu | |
| XM_011511730.1:c.38525C>T (TTN) | XP_011510032.1:p.Pro12842Leu | |
| XM_011511731.1:c.38384C>T (TTN) | XP_011510033.1:p.Pro12795Leu | |
| XM_017004819.1:c.64427C>T (TTN) | XP_016860308.1:p.Pro21476Leu | |
| XM_017004820.1:c.59825C>T (TTN) | XP_016860309.1:p.Pro19942Leu | |
| XM_017004821.1:c.59822C>T (TTN) | XP_016860310.1:p.Pro19941Leu | |
| XM_017004822.1:c.56864C>T (TTN) | XP_016860311.1:p.Pro18955Leu | |
| XM_017004823.1:c.38480C>T (TTN) | XP_016860312.1:p.Pro12827Leu | |
| XM_024453094.1:c.59975C>T (TTN) | XP_024308862.1:p.Pro19992Leu | |
| XM_024453095.1:c.59972C>T (TTN) | XP_024308863.1:p.Pro19991Leu | |
| XM_024453096.1:c.59405C>T (TTN) | XP_024308864.1:p.Pro19802Leu | |
| XM_024453097.1:c.56747C>T (TTN) | XP_024308865.1:p.Pro18916Leu | |
| XM_024453098.1:c.56666C>T (TTN) | XP_024308866.1:p.Pro18889Leu | |
| XM_024453099.1:c.38429C>T (TTN) | XP_024308867.1:p.Pro12810Leu | |
| XM_024453100.1:c.28283C>T (TTN) | XP_024308868.1:p.Pro9428Leu |