Linked Data
ClinVar Variation Id:
203102
dbSNP Id:
rs377171054
ExAC:
2:179395402 C / T
gnomAD v2:
2-179395402-C-T
gnomAD v3:
2-178530675-C-T
gnomAD v4:
2-178530675-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530675C>T , CM000664.2:g.178530675C>T | GRCh38 |
| NC_000002.11:g.179395402C>T , CM000664.1:g.179395402C>T | GRCh37 |
| NC_000002.10:g.179103648C>T | NCBI36 |
| NG_011618.3:g.305128G>A , LRG_391:g.305128G>A | |
| NG_051363.1:g.12849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98236G>A (TTN) | ENSP00000343764.6:p.Ala32746Thr | |
| ENST00000342175.11:c.79321G>A (TTN) | ENSP00000340554.6:p.Ala26441Thr | |
| ENST00000359218.10:c.79120G>A (TTN) | ENSP00000352154.5:p.Ala26374Thr | |
| ENST00000342175.10:c.79321G>A (TTN) | ENSP00000340554.6:p.Ala26441Thr | |
| ENST00000342992.10:c.98236G>A (TTN) | ENSP00000343764.6:p.Ala32746Thr | |
| ENST00000359218.9:c.79120G>A (TTN) | ENSP00000352154.5:p.Ala26374Thr | |
| ENST00000460472.6:c.78745G>A (TTN) | ENSP00000434586.1:p.Ala26249Thr | |
| ENST00000589042.5:c.105940G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala35314Thr | |
| ENST00000591111.5:c.101017G>A (TTN) | ENSP00000465570.1:p.Ala33673Thr | |
| ENST00000615779.4:c.101017G>A (TTN) | ENSP00000483597.1:p.Ala33673Thr | |
| NM_001256850.1:c.101017G>A (TTN) | NP_001243779.1:p.Ala33673Thr | |
| NM_001267550.2:c.105940G>A (TTN) MANE Select | NP_001254479.2:p.Ala35314Thr | |
| NM_003319.4:c.78745G>A (TTN) | NP_003310.4:p.Ala26249Thr | |
| NM_133378.4:c.98236G>A (TTN) | NP_596869.4:p.Ala32746Thr | |
| NM_133432.3:c.79120G>A (TTN) | NP_597676.3:p.Ala26374Thr | |
| NM_133437.4:c.79321G>A (TTN) | NP_597681.4:p.Ala26441Thr | |
| NR_038271.1:n.446+7039C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5057C>T (TTN-AS1) | ||
| XM_011511729.1:c.105037G>A (TTN) | XP_011510031.1:p.Ala35013Thr | |
| XM_011511730.1:c.78931G>A (TTN) | XP_011510032.1:p.Ala26311Thr | |
| XM_011511731.1:c.78790G>A (TTN) | XP_011510033.1:p.Ala26264Thr | |
| XM_017004819.1:c.104833G>A (TTN) | XP_016860308.1:p.Ala34945Thr | |
| XM_017004820.1:c.100231G>A (TTN) | XP_016860309.1:p.Ala33411Thr | |
| XM_017004821.1:c.100228G>A (TTN) | XP_016860310.1:p.Ala33410Thr | |
| XM_017004822.1:c.97270G>A (TTN) | XP_016860311.1:p.Ala32424Thr | |
| XM_017004823.1:c.78886G>A (TTN) | XP_016860312.1:p.Ala26296Thr | |
| XM_024453094.1:c.100381G>A (TTN) | XP_024308862.1:p.Ala33461Thr | |
| XM_024453095.1:c.100378G>A (TTN) | XP_024308863.1:p.Ala33460Thr | |
| XM_024453096.1:c.99811G>A (TTN) | XP_024308864.1:p.Ala33271Thr | |
| XM_024453097.1:c.97153G>A (TTN) | XP_024308865.1:p.Ala32385Thr | |
| XM_024453098.1:c.97072G>A (TTN) | XP_024308866.1:p.Ala32358Thr | |
| XM_024453099.1:c.78835G>A (TTN) | XP_024308867.1:p.Ala26279Thr | |
| XM_024453100.1:c.68689G>A (TTN) | XP_024308868.1:p.Ala22897Thr |