Linked Data
dbSNP Id:
rs780048908
ExAC:
2:179409141 T / C
gnomAD v2:
2-179409141-T-C
gnomAD v4:
2-178544414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544414T>C , CM000664.2:g.178544414T>C | GRCh38 |
| NC_000002.11:g.179409141T>C , CM000664.1:g.179409141T>C | GRCh37 |
| NC_000002.10:g.179117387T>C | NCBI36 |
| NG_011618.3:g.291389A>G , LRG_391:g.291389A>G | |
| NG_051363.1:g.26588T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88111A>G (TTN) | ENSP00000343764.6:p.Thr29371Ala | |
| ENST00000342175.11:c.69196A>G (TTN) | ENSP00000340554.6:p.Thr23066Ala | |
| ENST00000359218.10:c.68995A>G (TTN) | ENSP00000352154.5:p.Thr22999Ala | |
| ENST00000342175.10:c.69196A>G (TTN) | ENSP00000340554.6:p.Thr23066Ala | |
| ENST00000342992.10:c.88111A>G (TTN) | ENSP00000343764.6:p.Thr29371Ala | |
| ENST00000359218.9:c.68995A>G (TTN) | ENSP00000352154.5:p.Thr22999Ala | |
| ENST00000460472.6:c.68620A>G (TTN) | ENSP00000434586.1:p.Thr22874Ala | |
| ENST00000589042.5:c.95815A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr31939Ala | |
| ENST00000591111.5:c.90892A>G (TTN) | ENSP00000465570.1:p.Thr30298Ala | |
| ENST00000615779.4:c.90892A>G (TTN) | ENSP00000483597.1:p.Thr30298Ala | |
| NM_001256850.1:c.90892A>G (TTN) | NP_001243779.1:p.Thr30298Ala | |
| NM_001267550.2:c.95815A>G (TTN) MANE Select | NP_001254479.2:p.Thr31939Ala | |
| NM_003319.4:c.68620A>G (TTN) | NP_003310.4:p.Thr22874Ala | |
| NM_133378.4:c.88111A>G (TTN) | NP_596869.4:p.Thr29371Ala | |
| NM_133432.3:c.68995A>G (TTN) | NP_597676.3:p.Thr22999Ala | |
| NM_133437.4:c.69196A>G (TTN) | NP_597681.4:p.Thr23066Ala | |
| NR_038271.1:n.446+20778T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+2053T>C (TTN-AS1) | ||
| XM_011511729.1:c.94912A>G (TTN) | XP_011510031.1:p.Thr31638Ala | |
| XM_011511730.1:c.68806A>G (TTN) | XP_011510032.1:p.Thr22936Ala | |
| XM_011511731.1:c.68665A>G (TTN) | XP_011510033.1:p.Thr22889Ala | |
| XM_017004819.1:c.94708A>G (TTN) | XP_016860308.1:p.Thr31570Ala | |
| XM_017004820.1:c.90106A>G (TTN) | XP_016860309.1:p.Thr30036Ala | |
| XM_017004821.1:c.90103A>G (TTN) | XP_016860310.1:p.Thr30035Ala | |
| XM_017004822.1:c.87145A>G (TTN) | XP_016860311.1:p.Thr29049Ala | |
| XM_017004823.1:c.68761A>G (TTN) | XP_016860312.1:p.Thr22921Ala | |
| XM_024453094.1:c.90256A>G (TTN) | XP_024308862.1:p.Thr30086Ala | |
| XM_024453095.1:c.90253A>G (TTN) | XP_024308863.1:p.Thr30085Ala | |
| XM_024453096.1:c.89686A>G (TTN) | XP_024308864.1:p.Thr29896Ala | |
| XM_024453097.1:c.87028A>G (TTN) | XP_024308865.1:p.Thr29010Ala | |
| XM_024453098.1:c.86947A>G (TTN) | XP_024308866.1:p.Thr28983Ala | |
| XM_024453099.1:c.68710A>G (TTN) | XP_024308867.1:p.Thr22904Ala | |
| XM_024453100.1:c.58564A>G (TTN) | XP_024308868.1:p.Thr19522Ala |