Linked Data
ClinVar Variation Id:
165970
dbSNP Id:
rs201510986
ExAC:
2:179466511 C / T
gnomAD v2:
2-179466511-C-T
gnomAD v3:
2-178601784-C-T
gnomAD v4:
2-178601784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601784C>T , CM000664.2:g.178601784C>T | GRCh38 |
| NC_000002.11:g.179466511C>T , CM000664.1:g.179466511C>T | GRCh37 |
| NC_000002.10:g.179174756C>T | NCBI36 |
| NG_011618.3:g.234019G>A , LRG_391:g.234019G>A | |
| NG_051363.1:g.83958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47602G>A (TTN) | ENSP00000343764.6:p.Glu15868Lys | |
| ENST00000342175.11:c.28687G>A (TTN) | ENSP00000340554.6:p.Glu9563Lys | |
| ENST00000359218.10:c.28486G>A (TTN) | ENSP00000352154.5:p.Glu9496Lys | |
| ENST00000342175.10:c.28687G>A (TTN) | ENSP00000340554.6:p.Glu9563Lys | |
| ENST00000342992.10:c.47602G>A (TTN) | ENSP00000343764.6:p.Glu15868Lys | |
| ENST00000359218.9:c.28486G>A (TTN) | ENSP00000352154.5:p.Glu9496Lys | |
| ENST00000460472.6:c.28111G>A (TTN) | ENSP00000434586.1:p.Glu9371Lys | |
| ENST00000589042.5:c.55306G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu18436Lys | |
| ENST00000591111.5:c.50383G>A (TTN) | ENSP00000465570.1:p.Glu16795Lys | |
| ENST00000615779.4:c.50383G>A (TTN) | ENSP00000483597.1:p.Glu16795Lys | |
| NM_001256850.1:c.50383G>A (TTN) | NP_001243779.1:p.Glu16795Lys | |
| NM_001267550.2:c.55306G>A (TTN) MANE Select | NP_001254479.2:p.Glu18436Lys | |
| NM_003319.4:c.28111G>A (TTN) | NP_003310.4:p.Glu9371Lys | |
| NM_133378.4:c.47602G>A (TTN) | NP_596869.4:p.Glu15868Lys | |
| NM_133432.3:c.28486G>A (TTN) | NP_597676.3:p.Glu9496Lys | |
| NM_133437.4:c.28687G>A (TTN) | NP_597681.4:p.Glu9563Lys | |
| NR_038271.1:n.682+4103C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+1117C>T (TTN-AS1) | ||
| XM_011511729.1:c.54403G>A (TTN) | XP_011510031.1:p.Glu18135Lys | |
| XM_011511730.1:c.28297G>A (TTN) | XP_011510032.1:p.Glu9433Lys | |
| XM_011511731.1:c.28156G>A (TTN) | XP_011510033.1:p.Glu9386Lys | |
| XM_017004819.1:c.54199G>A (TTN) | XP_016860308.1:p.Glu18067Lys | |
| XM_017004820.1:c.49597G>A (TTN) | XP_016860309.1:p.Glu16533Lys | |
| XM_017004821.1:c.49594G>A (TTN) | XP_016860310.1:p.Glu16532Lys | |
| XM_017004822.1:c.46636G>A (TTN) | XP_016860311.1:p.Glu15546Lys | |
| XM_017004823.1:c.28252G>A (TTN) | XP_016860312.1:p.Glu9418Lys | |
| XM_024453094.1:c.49747G>A (TTN) | XP_024308862.1:p.Glu16583Lys | |
| XM_024453095.1:c.49744G>A (TTN) | XP_024308863.1:p.Glu16582Lys | |
| XM_024453096.1:c.49177G>A (TTN) | XP_024308864.1:p.Glu16393Lys | |
| XM_024453097.1:c.46519G>A (TTN) | XP_024308865.1:p.Glu15507Lys | |
| XM_024453098.1:c.46438G>A (TTN) | XP_024308866.1:p.Glu15480Lys | |
| XM_024453099.1:c.28201G>A (TTN) | XP_024308867.1:p.Glu9401Lys | |
| XM_024453100.1:c.18055G>A (TTN) | XP_024308868.1:p.Glu6019Lys |