Linked Data
ClinVar Variation Id:
203094
dbSNP Id:
rs779464128
ExAC:
2:179395951 T / C
gnomAD v2:
2-179395951-T-C
gnomAD v3:
2-178531224-T-C
gnomAD v4:
2-178531224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531224T>C , CM000664.2:g.178531224T>C | GRCh38 |
| NC_000002.11:g.179395951T>C , CM000664.1:g.179395951T>C | GRCh37 |
| NC_000002.10:g.179104197T>C | NCBI36 |
| NG_011618.3:g.304579A>G , LRG_391:g.304579A>G | |
| NG_051363.1:g.13398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97687A>G (TTN) | ENSP00000343764.6:p.Ile32563Val | |
| ENST00000342175.11:c.78772A>G (TTN) | ENSP00000340554.6:p.Ile26258Val | |
| ENST00000359218.10:c.78571A>G (TTN) | ENSP00000352154.5:p.Ile26191Val | |
| ENST00000342175.10:c.78772A>G (TTN) | ENSP00000340554.6:p.Ile26258Val | |
| ENST00000342992.10:c.97687A>G (TTN) | ENSP00000343764.6:p.Ile32563Val | |
| ENST00000359218.9:c.78571A>G (TTN) | ENSP00000352154.5:p.Ile26191Val | |
| ENST00000460472.6:c.78196A>G (TTN) | ENSP00000434586.1:p.Ile26066Val | |
| ENST00000589042.5:c.105391A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile35131Val | |
| ENST00000591111.5:c.100468A>G (TTN) | ENSP00000465570.1:p.Ile33490Val | |
| ENST00000615779.4:c.100468A>G (TTN) | ENSP00000483597.1:p.Ile33490Val | |
| NM_001256850.1:c.100468A>G (TTN) | NP_001243779.1:p.Ile33490Val | |
| NM_001267550.2:c.105391A>G (TTN) MANE Select | NP_001254479.2:p.Ile35131Val | |
| NM_003319.4:c.78196A>G (TTN) | NP_003310.4:p.Ile26066Val | |
| NM_133378.4:c.97687A>G (TTN) | NP_596869.4:p.Ile32563Val | |
| NM_133432.3:c.78571A>G (TTN) | NP_597676.3:p.Ile26191Val | |
| NM_133437.4:c.78772A>G (TTN) | NP_597681.4:p.Ile26258Val | |
| NR_038271.1:n.446+7588T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4508T>C (TTN-AS1) | ||
| XM_011511729.1:c.104488A>G (TTN) | XP_011510031.1:p.Ile34830Val | |
| XM_011511730.1:c.78382A>G (TTN) | XP_011510032.1:p.Ile26128Val | |
| XM_011511731.1:c.78241A>G (TTN) | XP_011510033.1:p.Ile26081Val | |
| XM_017004819.1:c.104284A>G (TTN) | XP_016860308.1:p.Ile34762Val | |
| XM_017004820.1:c.99682A>G (TTN) | XP_016860309.1:p.Ile33228Val | |
| XM_017004821.1:c.99679A>G (TTN) | XP_016860310.1:p.Ile33227Val | |
| XM_017004822.1:c.96721A>G (TTN) | XP_016860311.1:p.Ile32241Val | |
| XM_017004823.1:c.78337A>G (TTN) | XP_016860312.1:p.Ile26113Val | |
| XM_024453094.1:c.99832A>G (TTN) | XP_024308862.1:p.Ile33278Val | |
| XM_024453095.1:c.99829A>G (TTN) | XP_024308863.1:p.Ile33277Val | |
| XM_024453096.1:c.99262A>G (TTN) | XP_024308864.1:p.Ile33088Val | |
| XM_024453097.1:c.96604A>G (TTN) | XP_024308865.1:p.Ile32202Val | |
| XM_024453098.1:c.96523A>G (TTN) | XP_024308866.1:p.Ile32175Val | |
| XM_024453099.1:c.78286A>G (TTN) | XP_024308867.1:p.Ile26096Val | |
| XM_024453100.1:c.68140A>G (TTN) | XP_024308868.1:p.Ile22714Val |