Linked Data
ClinVar Variation Id:
165978
ClinVar RCV Id:
RCV000152311
RCV000643272
RCV001131770
RCV000725049
RCV001129100
RCV001131767
RCV001131768
RCV001131769
RCV002453497
RCV003149927
dbSNP Id:
rs200968679
ExAC:
2:179469744 C / G
gnomAD v2:
2-179469744-C-G
gnomAD v3:
2-178605017-C-G
gnomAD v4:
2-178605017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605017C>G , CM000664.2:g.178605017C>G | GRCh38 |
| NC_000002.11:g.179469744C>G , CM000664.1:g.179469744C>G | GRCh37 |
| NC_000002.10:g.179177989C>G | NCBI36 |
| NG_011618.3:g.230786G>C , LRG_391:g.230786G>C | |
| NG_051363.1:g.87191C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46456G>C (TTN) | ENSP00000343764.6:p.Val15486Leu | |
| ENST00000342175.11:c.27541G>C (TTN) | ENSP00000340554.6:p.Val9181Leu | |
| ENST00000359218.10:c.27340G>C (TTN) | ENSP00000352154.5:p.Val9114Leu | |
| ENST00000342175.10:c.27541G>C (TTN) | ENSP00000340554.6:p.Val9181Leu | |
| ENST00000342992.10:c.46456G>C (TTN) | ENSP00000343764.6:p.Val15486Leu | |
| ENST00000359218.9:c.27340G>C (TTN) | ENSP00000352154.5:p.Val9114Leu | |
| ENST00000460472.6:c.26965G>C (TTN) | ENSP00000434586.1:p.Val8989Leu | |
| ENST00000589042.5:c.54160G>C (TTN) MANE Select | ENSP00000467141.1:p.Val18054Leu | |
| ENST00000591111.5:c.49237G>C (TTN) | ENSP00000465570.1:p.Val16413Leu | |
| ENST00000615779.4:c.49237G>C (TTN) | ENSP00000483597.1:p.Val16413Leu | |
| NM_001256850.1:c.49237G>C (TTN) | NP_001243779.1:p.Val16413Leu | |
| NM_001267550.2:c.54160G>C (TTN) MANE Select | NP_001254479.2:p.Val18054Leu | |
| NM_003319.4:c.26965G>C (TTN) | NP_003310.4:p.Val8989Leu | |
| NM_133378.4:c.46456G>C (TTN) | NP_596869.4:p.Val15486Leu | |
| NM_133432.3:c.27340G>C (TTN) | NP_597676.3:p.Val9114Leu | |
| NM_133437.4:c.27541G>C (TTN) | NP_597681.4:p.Val9181Leu | |
| NR_038271.1:n.683-3150C>G (TTN-AS1) | ||
| NR_038272.1:n.4204C>G (TTN-AS1) | ||
| XM_011511729.1:c.53257G>C (TTN) | XP_011510031.1:p.Val17753Leu | |
| XM_011511730.1:c.27151G>C (TTN) | XP_011510032.1:p.Val9051Leu | |
| XM_011511731.1:c.27010G>C (TTN) | XP_011510033.1:p.Val9004Leu | |
| XM_017004819.1:c.53053G>C (TTN) | XP_016860308.1:p.Val17685Leu | |
| XM_017004820.1:c.48451G>C (TTN) | XP_016860309.1:p.Val16151Leu | |
| XM_017004821.1:c.48448G>C (TTN) | XP_016860310.1:p.Val16150Leu | |
| XM_017004822.1:c.45490G>C (TTN) | XP_016860311.1:p.Val15164Leu | |
| XM_017004823.1:c.27106G>C (TTN) | XP_016860312.1:p.Val9036Leu | |
| XM_024453094.1:c.48601G>C (TTN) | XP_024308862.1:p.Val16201Leu | |
| XM_024453095.1:c.48598G>C (TTN) | XP_024308863.1:p.Val16200Leu | |
| XM_024453096.1:c.48031G>C (TTN) | XP_024308864.1:p.Val16011Leu | |
| XM_024453097.1:c.45373G>C (TTN) | XP_024308865.1:p.Val15125Leu | |
| XM_024453098.1:c.45292G>C (TTN) | XP_024308866.1:p.Val15098Leu | |
| XM_024453099.1:c.27055G>C (TTN) | XP_024308867.1:p.Val9019Leu | |
| XM_024453100.1:c.16909G>C (TTN) | XP_024308868.1:p.Val5637Leu |