Linked Data
ClinVar Variation Id:
47481
ClinVar RCV Id:
RCV000040750
RCV000535039
RCV000618466
RCV000768869
RCV001131625
RCV001131626
RCV001131627
RCV001131628
RCV001132650
RCV001796719
RCV004541188
dbSNP Id:
rs371612136
ExAC:
2:179419701 G / A
gnomAD v2:
2-179419701-G-A
gnomAD v3:
2-178554974-G-A
gnomAD v4:
2-178554974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554974G>A , CM000664.2:g.178554974G>A | GRCh38 |
| NC_000002.11:g.179419701G>A , CM000664.1:g.179419701G>A | GRCh37 |
| NC_000002.10:g.179127947G>A | NCBI36 |
| NG_011618.3:g.280829C>T , LRG_391:g.280829C>T | |
| NG_051363.1:g.37148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80781C>T (TTN) | ENSP00000343764.6:p.Leu26927= | |
| ENST00000342175.11:c.61866C>T (TTN) | ENSP00000340554.6:p.Leu20622= | |
| ENST00000359218.10:c.61665C>T (TTN) | ENSP00000352154.5:p.Leu20555= | |
| ENST00000342175.10:c.61866C>T (TTN) | ENSP00000340554.6:p.Leu20622= | |
| ENST00000342992.10:c.80781C>T (TTN) | ENSP00000343764.6:p.Leu26927= | |
| ENST00000359218.9:c.61665C>T (TTN) | ENSP00000352154.5:p.Leu20555= | |
| ENST00000460472.6:c.61290C>T (TTN) | ENSP00000434586.1:p.Leu20430= | |
| ENST00000589042.5:c.88485C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu29495= | |
| ENST00000591111.5:c.83562C>T (TTN) | ENSP00000465570.1:p.Leu27854= | |
| ENST00000615779.4:c.83562C>T (TTN) | ENSP00000483597.1:p.Leu27854= | |
| NM_001256850.1:c.83562C>T (TTN) | NP_001243779.1:p.Leu27854= | |
| NM_001267550.2:c.88485C>T (TTN) MANE Select | NP_001254479.2:p.Leu29495= | |
| NM_003319.4:c.61290C>T (TTN) | NP_003310.4:p.Leu20430= | |
| NM_133378.4:c.80781C>T (TTN) | NP_596869.4:p.Leu26927= | |
| NM_133432.3:c.61665C>T (TTN) | NP_597676.3:p.Leu20555= | |
| NM_133437.4:c.61866C>T (TTN) | NP_597681.4:p.Leu20622= | |
| NR_038271.1:n.447-16326G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12613G>A (TTN-AS1) | ||
| XM_011511729.1:c.87582C>T (TTN) | XP_011510031.1:p.Leu29194= | |
| XM_011511730.1:c.61476C>T (TTN) | XP_011510032.1:p.Leu20492= | |
| XM_011511731.1:c.61335C>T (TTN) | XP_011510033.1:p.Leu20445= | |
| XM_017004819.1:c.87378C>T (TTN) | XP_016860308.1:p.Leu29126= | |
| XM_017004820.1:c.82776C>T (TTN) | XP_016860309.1:p.Leu27592= | |
| XM_017004821.1:c.82773C>T (TTN) | XP_016860310.1:p.Leu27591= | |
| XM_017004822.1:c.79815C>T (TTN) | XP_016860311.1:p.Leu26605= | |
| XM_017004823.1:c.61431C>T (TTN) | XP_016860312.1:p.Leu20477= | |
| XM_024453094.1:c.82926C>T (TTN) | XP_024308862.1:p.Leu27642= | |
| XM_024453095.1:c.82923C>T (TTN) | XP_024308863.1:p.Leu27641= | |
| XM_024453096.1:c.82356C>T (TTN) | XP_024308864.1:p.Leu27452= | |
| XM_024453097.1:c.79698C>T (TTN) | XP_024308865.1:p.Leu26566= | |
| XM_024453098.1:c.79617C>T (TTN) | XP_024308866.1:p.Leu26539= | |
| XM_024453099.1:c.61380C>T (TTN) | XP_024308867.1:p.Leu20460= | |
| XM_024453100.1:c.51234C>T (TTN) | XP_024308868.1:p.Leu17078= |