Linked Data
ClinVar Variation Id:
178210
ClinVar RCV Id:
RCV000154944
RCV000868562
RCV001129415
RCV001129417
RCV001129414
RCV001129416
RCV001129418
RCV001697053
dbSNP Id:
rs77496539
ExAC:
2:179484464 A / T
gnomAD v2:
2-179484464-A-T
gnomAD v3:
2-178619737-A-T
gnomAD v4:
2-178619737-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178619737A>T , CM000664.2:g.178619737A>T | GRCh38 |
| NC_000002.11:g.179484464A>T , CM000664.1:g.179484464A>T | GRCh37 |
| NC_000002.10:g.179192709A>T | NCBI36 |
| NG_011618.3:g.216066T>A , LRG_391:g.216066T>A | |
| NG_051363.1:g.101911A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38876T>A (TTN) | ENSP00000343764.6:p.Met12959Lys | |
| ENST00000342175.11:c.19961T>A (TTN) | ENSP00000340554.6:p.Met6654Lys | |
| ENST00000359218.10:c.19760T>A (TTN) | ENSP00000352154.5:p.Met6587Lys | |
| ENST00000342175.10:c.19961T>A (TTN) | ENSP00000340554.6:p.Met6654Lys | |
| ENST00000342992.10:c.38876T>A (TTN) | ENSP00000343764.6:p.Met12959Lys | |
| ENST00000359218.9:c.19760T>A (TTN) | ENSP00000352154.5:p.Met6587Lys | |
| ENST00000460472.6:c.19385T>A (TTN) | ENSP00000434586.1:p.Met6462Lys | |
| ENST00000589042.5:c.46580T>A (TTN) MANE Select | ENSP00000467141.1:p.Met15527Lys | |
| ENST00000591111.5:c.41657T>A (TTN) | ENSP00000465570.1:p.Met13886Lys | |
| ENST00000615779.4:c.41657T>A (TTN) | ENSP00000483597.1:p.Met13886Lys | |
| NM_001256850.1:c.41657T>A (TTN) | NP_001243779.1:p.Met13886Lys | |
| NM_001267550.2:c.46580T>A (TTN) MANE Select | NP_001254479.2:p.Met15527Lys | |
| NM_003319.4:c.19385T>A (TTN) | NP_003310.4:p.Met6462Lys | |
| NM_133378.4:c.38876T>A (TTN) | NP_596869.4:p.Met12959Lys | |
| NM_133432.3:c.19760T>A (TTN) | NP_597676.3:p.Met6587Lys | |
| NM_133437.4:c.19961T>A (TTN) | NP_597681.4:p.Met6654Lys | |
| NR_038271.1:n.1605-16A>T (TTN-AS1) | ||
| XM_011511729.1:c.45677T>A (TTN) | XP_011510031.1:p.Met15226Lys | |
| XM_011511730.1:c.19571T>A (TTN) | XP_011510032.1:p.Met6524Lys | |
| XM_011511731.1:c.19430T>A (TTN) | XP_011510033.1:p.Met6477Lys | |
| XM_017004819.1:c.45473T>A (TTN) | XP_016860308.1:p.Met15158Lys | |
| XM_017004820.1:c.40871T>A (TTN) | XP_016860309.1:p.Met13624Lys | |
| XM_017004821.1:c.40868T>A (TTN) | XP_016860310.1:p.Met13623Lys | |
| XM_017004822.1:c.37910T>A (TTN) | XP_016860311.1:p.Met12637Lys | |
| XM_017004823.1:c.19526T>A (TTN) | XP_016860312.1:p.Met6509Lys | |
| XM_024453094.1:c.41021T>A (TTN) | XP_024308862.1:p.Met13674Lys | |
| XM_024453095.1:c.41018T>A (TTN) | XP_024308863.1:p.Met13673Lys | |
| XM_024453096.1:c.40451T>A (TTN) | XP_024308864.1:p.Met13484Lys | |
| XM_024453097.1:c.37793T>A (TTN) | XP_024308865.1:p.Met12598Lys | |
| XM_024453098.1:c.37712T>A (TTN) | XP_024308866.1:p.Met12571Lys | |
| XM_024453099.1:c.19475T>A (TTN) | XP_024308867.1:p.Met6492Lys | |
| XM_024453100.1:c.9329T>A (TTN) | XP_024308868.1:p.Met3110Lys |