Linked Data
ClinVar Variation Id:
282186
ClinVar RCV Id:
RCV000304864
RCV000769003
RCV001134525
RCV001134526
RCV001134528
RCV001134527
RCV001134529
RCV002418107
dbSNP Id:
rs758399903
ExAC:
2:179481561 C / T
gnomAD v2:
2-179481561-C-T
gnomAD v3:
2-178616834-C-T
gnomAD v4:
2-178616834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616834C>T , CM000664.2:g.178616834C>T | GRCh38 |
| NC_000002.11:g.179481561C>T , CM000664.1:g.179481561C>T | GRCh37 |
| NC_000002.10:g.179189806C>T | NCBI36 |
| NG_011618.3:g.218969G>A , LRG_391:g.218969G>A | |
| NG_051363.1:g.99008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40351G>A (TTN) | ENSP00000343764.6:p.Glu13451Lys | |
| ENST00000342175.11:c.21436G>A (TTN) | ENSP00000340554.6:p.Glu7146Lys | |
| ENST00000359218.10:c.21235G>A (TTN) | ENSP00000352154.5:p.Glu7079Lys | |
| ENST00000342175.10:c.21436G>A (TTN) | ENSP00000340554.6:p.Glu7146Lys | |
| ENST00000342992.10:c.40351G>A (TTN) | ENSP00000343764.6:p.Glu13451Lys | |
| ENST00000359218.9:c.21235G>A (TTN) | ENSP00000352154.5:p.Glu7079Lys | |
| ENST00000460472.6:c.20860G>A (TTN) | ENSP00000434586.1:p.Glu6954Lys | |
| ENST00000589042.5:c.48055G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu16019Lys | |
| ENST00000591111.5:c.43132G>A (TTN) | ENSP00000465570.1:p.Glu14378Lys | |
| ENST00000615779.4:c.43132G>A (TTN) | ENSP00000483597.1:p.Glu14378Lys | |
| NM_001256850.1:c.43132G>A (TTN) | NP_001243779.1:p.Glu14378Lys | |
| NM_001267550.2:c.48055G>A (TTN) MANE Select | NP_001254479.2:p.Glu16019Lys | |
| NM_003319.4:c.20860G>A (TTN) | NP_003310.4:p.Glu6954Lys | |
| NM_133378.4:c.40351G>A (TTN) | NP_596869.4:p.Glu13451Lys | |
| NM_133432.3:c.21235G>A (TTN) | NP_597676.3:p.Glu7079Lys | |
| NM_133437.4:c.21436G>A (TTN) | NP_597681.4:p.Glu7146Lys | |
| NR_038271.1:n.1604+1460C>T (TTN-AS1) | ||
| XM_011511729.1:c.47152G>A (TTN) | XP_011510031.1:p.Glu15718Lys | |
| XM_011511730.1:c.21046G>A (TTN) | XP_011510032.1:p.Glu7016Lys | |
| XM_011511731.1:c.20905G>A (TTN) | XP_011510033.1:p.Glu6969Lys | |
| XM_017004819.1:c.46948G>A (TTN) | XP_016860308.1:p.Glu15650Lys | |
| XM_017004820.1:c.42346G>A (TTN) | XP_016860309.1:p.Glu14116Lys | |
| XM_017004821.1:c.42343G>A (TTN) | XP_016860310.1:p.Glu14115Lys | |
| XM_017004822.1:c.39385G>A (TTN) | XP_016860311.1:p.Glu13129Lys | |
| XM_017004823.1:c.21001G>A (TTN) | XP_016860312.1:p.Glu7001Lys | |
| XM_024453094.1:c.42496G>A (TTN) | XP_024308862.1:p.Glu14166Lys | |
| XM_024453095.1:c.42493G>A (TTN) | XP_024308863.1:p.Glu14165Lys | |
| XM_024453096.1:c.41926G>A (TTN) | XP_024308864.1:p.Glu13976Lys | |
| XM_024453097.1:c.39268G>A (TTN) | XP_024308865.1:p.Glu13090Lys | |
| XM_024453098.1:c.39187G>A (TTN) | XP_024308866.1:p.Glu13063Lys | |
| XM_024453099.1:c.20950G>A (TTN) | XP_024308867.1:p.Glu6984Lys | |
| XM_024453100.1:c.10804G>A (TTN) | XP_024308868.1:p.Glu3602Lys |