Linked Data
ClinVar Variation Id:
195551
ClinVar RCV Id:
RCV000617431
RCV000724694
RCV001128755
RCV001128756
RCV001083383
RCV001131393
RCV001128757
RCV001128758
dbSNP Id:
rs202141158
ExAC:
2:179480210 C / T
gnomAD v2:
2-179480210-C-T
gnomAD v3:
2-178615483-C-T
gnomAD v4:
2-178615483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615483C>T , CM000664.2:g.178615483C>T | GRCh38 |
| NC_000002.11:g.179480210C>T , CM000664.1:g.179480210C>T | GRCh37 |
| NC_000002.10:g.179188455C>T | NCBI36 |
| NG_011618.3:g.220320G>A , LRG_391:g.220320G>A | |
| NG_051363.1:g.97657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40758G>A (TTN) | ENSP00000343764.6:p.Thr13586= | |
| ENST00000342175.11:c.21843G>A (TTN) | ENSP00000340554.6:p.Thr7281= | |
| ENST00000359218.10:c.21642G>A (TTN) | ENSP00000352154.5:p.Thr7214= | |
| ENST00000342175.10:c.21843G>A (TTN) | ENSP00000340554.6:p.Thr7281= | |
| ENST00000342992.10:c.40758G>A (TTN) | ENSP00000343764.6:p.Thr13586= | |
| ENST00000359218.9:c.21642G>A (TTN) | ENSP00000352154.5:p.Thr7214= | |
| ENST00000460472.6:c.21267G>A (TTN) | ENSP00000434586.1:p.Thr7089= | |
| ENST00000589042.5:c.48462G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr16154= | |
| ENST00000591111.5:c.43539G>A (TTN) | ENSP00000465570.1:p.Thr14513= | |
| ENST00000615779.4:c.43539G>A (TTN) | ENSP00000483597.1:p.Thr14513= | |
| NM_001256850.1:c.43539G>A (TTN) | NP_001243779.1:p.Thr14513= | |
| NM_001267550.2:c.48462G>A (TTN) MANE Select | NP_001254479.2:p.Thr16154= | |
| NM_003319.4:c.21267G>A (TTN) | NP_003310.4:p.Thr7089= | |
| NM_133378.4:c.40758G>A (TTN) | NP_596869.4:p.Thr13586= | |
| NM_133432.3:c.21642G>A (TTN) | NP_597676.3:p.Thr7214= | |
| NM_133437.4:c.21843G>A (TTN) | NP_597681.4:p.Thr7281= | |
| NR_038271.1:n.1604+109C>T (TTN-AS1) | ||
| XM_011511729.1:c.47559G>A (TTN) | XP_011510031.1:p.Thr15853= | |
| XM_011511730.1:c.21453G>A (TTN) | XP_011510032.1:p.Thr7151= | |
| XM_011511731.1:c.21312G>A (TTN) | XP_011510033.1:p.Thr7104= | |
| XM_017004819.1:c.47355G>A (TTN) | XP_016860308.1:p.Thr15785= | |
| XM_017004820.1:c.42753G>A (TTN) | XP_016860309.1:p.Thr14251= | |
| XM_017004821.1:c.42750G>A (TTN) | XP_016860310.1:p.Thr14250= | |
| XM_017004822.1:c.39792G>A (TTN) | XP_016860311.1:p.Thr13264= | |
| XM_017004823.1:c.21408G>A (TTN) | XP_016860312.1:p.Thr7136= | |
| XM_024453094.1:c.42903G>A (TTN) | XP_024308862.1:p.Thr14301= | |
| XM_024453095.1:c.42900G>A (TTN) | XP_024308863.1:p.Thr14300= | |
| XM_024453096.1:c.42333G>A (TTN) | XP_024308864.1:p.Thr14111= | |
| XM_024453097.1:c.39675G>A (TTN) | XP_024308865.1:p.Thr13225= | |
| XM_024453098.1:c.39594G>A (TTN) | XP_024308866.1:p.Thr13198= | |
| XM_024453099.1:c.21357G>A (TTN) | XP_024308867.1:p.Thr7119= | |
| XM_024453100.1:c.11211G>A (TTN) | XP_024308868.1:p.Thr3737= |