Linked Data
ClinVar Variation Id:
1314171
ClinVar RCV Id:
RCV001771402
dbSNP Id:
rs1692183695
gnomAD v3:
2-178537551-A-G
gnomAD v4:
2-178537551-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537551A>G , CM000664.2:g.178537551A>G | GRCh38 |
| NC_000002.11:g.179402278A>G , CM000664.1:g.179402278A>G | GRCh37 |
| NC_000002.10:g.179110524A>G | NCBI36 |
| NG_011618.3:g.298252T>C , LRG_391:g.298252T>C | |
| NG_051363.1:g.19725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91952T>C (TTN) | ENSP00000343764.6:p.Met30651Thr | |
| ENST00000342175.11:c.73037T>C (TTN) | ENSP00000340554.6:p.Met24346Thr | |
| ENST00000359218.10:c.72836T>C (TTN) | ENSP00000352154.5:p.Met24279Thr | |
| ENST00000342175.10:c.73037T>C (TTN) | ENSP00000340554.6:p.Met24346Thr | |
| ENST00000342992.10:c.91952T>C (TTN) | ENSP00000343764.6:p.Met30651Thr | |
| ENST00000359218.9:c.72836T>C (TTN) | ENSP00000352154.5:p.Met24279Thr | |
| ENST00000460472.6:c.72461T>C (TTN) | ENSP00000434586.1:p.Met24154Thr | |
| ENST00000589042.5:c.99656T>C (TTN) MANE Select | ENSP00000467141.1:p.Met33219Thr | |
| ENST00000591111.5:c.94733T>C (TTN) | ENSP00000465570.1:p.Met31578Thr | |
| ENST00000615779.4:c.94733T>C (TTN) | ENSP00000483597.1:p.Met31578Thr | |
| NM_001256850.1:c.94733T>C (TTN) | NP_001243779.1:p.Met31578Thr | |
| NM_001267550.2:c.99656T>C (TTN) MANE Select | NP_001254479.2:p.Met33219Thr | |
| NM_003319.4:c.72461T>C (TTN) | NP_003310.4:p.Met24154Thr | |
| NM_133378.4:c.91952T>C (TTN) | NP_596869.4:p.Met30651Thr | |
| NM_133432.3:c.72836T>C (TTN) | NP_597676.3:p.Met24279Thr | |
| NM_133437.4:c.73037T>C (TTN) | NP_597681.4:p.Met24346Thr | |
| NR_038271.1:n.446+13915A>G (TTN-AS1) | ||
| NR_038272.1:n.507A>G (TTN-AS1) | ||
| XM_011511729.1:c.98753T>C (TTN) | XP_011510031.1:p.Met32918Thr | |
| XM_011511730.1:c.72647T>C (TTN) | XP_011510032.1:p.Met24216Thr | |
| XM_011511731.1:c.72506T>C (TTN) | XP_011510033.1:p.Met24169Thr | |
| XM_017004819.1:c.98549T>C (TTN) | XP_016860308.1:p.Met32850Thr | |
| XM_017004820.1:c.93947T>C (TTN) | XP_016860309.1:p.Met31316Thr | |
| XM_017004821.1:c.93944T>C (TTN) | XP_016860310.1:p.Met31315Thr | |
| XM_017004822.1:c.90986T>C (TTN) | XP_016860311.1:p.Met30329Thr | |
| XM_017004823.1:c.72602T>C (TTN) | XP_016860312.1:p.Met24201Thr | |
| XM_024453094.1:c.94097T>C (TTN) | XP_024308862.1:p.Met31366Thr | |
| XM_024453095.1:c.94094T>C (TTN) | XP_024308863.1:p.Met31365Thr | |
| XM_024453096.1:c.93527T>C (TTN) | XP_024308864.1:p.Met31176Thr | |
| XM_024453097.1:c.90869T>C (TTN) | XP_024308865.1:p.Met30290Thr | |
| XM_024453098.1:c.90788T>C (TTN) | XP_024308866.1:p.Met30263Thr | |
| XM_024453099.1:c.72551T>C (TTN) | XP_024308867.1:p.Met24184Thr | |
| XM_024453100.1:c.62405T>C (TTN) | XP_024308868.1:p.Met20802Thr |