Linked Data
ClinVar Variation Id:
179048
ClinVar RCV Id:
RCV000155832
RCV000471687
RCV000725815
RCV000618664
RCV001136068
RCV001132677
RCV001132678
RCV001132679
RCV001132680
dbSNP Id:
rs371943746
ExAC:
2:179481955 C / T
gnomAD v2:
2-179481955-C-T
gnomAD v3:
2-178617228-C-T
gnomAD v4:
2-178617228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617228C>T , CM000664.2:g.178617228C>T | GRCh38 |
| NC_000002.11:g.179481955C>T , CM000664.1:g.179481955C>T | GRCh37 |
| NC_000002.10:g.179190200C>T | NCBI36 |
| NG_011618.3:g.218575G>A , LRG_391:g.218575G>A | |
| NG_051363.1:g.99402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40063G>A (TTN) | ENSP00000343764.6:p.Gly13355Arg | |
| ENST00000342175.11:c.21148G>A (TTN) | ENSP00000340554.6:p.Gly7050Arg | |
| ENST00000359218.10:c.20947G>A (TTN) | ENSP00000352154.5:p.Gly6983Arg | |
| ENST00000342175.10:c.21148G>A (TTN) | ENSP00000340554.6:p.Gly7050Arg | |
| ENST00000342992.10:c.40063G>A (TTN) | ENSP00000343764.6:p.Gly13355Arg | |
| ENST00000359218.9:c.20947G>A (TTN) | ENSP00000352154.5:p.Gly6983Arg | |
| ENST00000460472.6:c.20572G>A (TTN) | ENSP00000434586.1:p.Gly6858Arg | |
| ENST00000589042.5:c.47767G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly15923Arg | |
| ENST00000591111.5:c.42844G>A (TTN) | ENSP00000465570.1:p.Gly14282Arg | |
| ENST00000615779.4:c.42844G>A (TTN) | ENSP00000483597.1:p.Gly14282Arg | |
| NM_001256850.1:c.42844G>A (TTN) | NP_001243779.1:p.Gly14282Arg | |
| NM_001267550.2:c.47767G>A (TTN) MANE Select | NP_001254479.2:p.Gly15923Arg | |
| NM_003319.4:c.20572G>A (TTN) | NP_003310.4:p.Gly6858Arg | |
| NM_133378.4:c.40063G>A (TTN) | NP_596869.4:p.Gly13355Arg | |
| NM_133432.3:c.20947G>A (TTN) | NP_597676.3:p.Gly6983Arg | |
| NM_133437.4:c.21148G>A (TTN) | NP_597681.4:p.Gly7050Arg | |
| NR_038271.1:n.1604+1854C>T (TTN-AS1) | ||
| XM_011511729.1:c.46864G>A (TTN) | XP_011510031.1:p.Gly15622Arg | |
| XM_011511730.1:c.20758G>A (TTN) | XP_011510032.1:p.Gly6920Arg | |
| XM_011511731.1:c.20617G>A (TTN) | XP_011510033.1:p.Gly6873Arg | |
| XM_017004819.1:c.46660G>A (TTN) | XP_016860308.1:p.Gly15554Arg | |
| XM_017004820.1:c.42058G>A (TTN) | XP_016860309.1:p.Gly14020Arg | |
| XM_017004821.1:c.42055G>A (TTN) | XP_016860310.1:p.Gly14019Arg | |
| XM_017004822.1:c.39097G>A (TTN) | XP_016860311.1:p.Gly13033Arg | |
| XM_017004823.1:c.20713G>A (TTN) | XP_016860312.1:p.Gly6905Arg | |
| XM_024453094.1:c.42208G>A (TTN) | XP_024308862.1:p.Gly14070Arg | |
| XM_024453095.1:c.42205G>A (TTN) | XP_024308863.1:p.Gly14069Arg | |
| XM_024453096.1:c.41638G>A (TTN) | XP_024308864.1:p.Gly13880Arg | |
| XM_024453097.1:c.38980G>A (TTN) | XP_024308865.1:p.Gly12994Arg | |
| XM_024453098.1:c.38899G>A (TTN) | XP_024308866.1:p.Gly12967Arg | |
| XM_024453099.1:c.20662G>A (TTN) | XP_024308867.1:p.Gly6888Arg | |
| XM_024453100.1:c.10516G>A (TTN) | XP_024308868.1:p.Gly3506Arg |