Linked Data
ClinVar Variation Id:
191935
ClinVar RCV Id:
RCV000172302
RCV000213728
RCV000233875
RCV000764323
RCV001130772
RCV001130773
RCV001130774
RCV001130775
RCV001130776
RCV001798613
RCV002433752
dbSNP Id:
rs188185141
ExAC:
2:179462367 T / C
gnomAD v2:
2-179462367-T-C
gnomAD v3:
2-178597640-T-C
gnomAD v4:
2-178597640-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597640T>C , CM000664.2:g.178597640T>C | GRCh38 |
| NC_000002.11:g.179462367T>C , CM000664.1:g.179462367T>C | GRCh37 |
| NC_000002.10:g.179170612T>C | NCBI36 |
| NG_011618.3:g.238163A>G , LRG_391:g.238163A>G | |
| NG_051363.1:g.79814T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49738A>G (TTN) | ENSP00000343764.6:p.Met16580Val | |
| ENST00000342175.11:c.30823A>G (TTN) | ENSP00000340554.6:p.Met10275Val | |
| ENST00000359218.10:c.30622A>G (TTN) | ENSP00000352154.5:p.Met10208Val | |
| ENST00000342175.10:c.30823A>G (TTN) | ENSP00000340554.6:p.Met10275Val | |
| ENST00000342992.10:c.49738A>G (TTN) | ENSP00000343764.6:p.Met16580Val | |
| ENST00000359218.9:c.30622A>G (TTN) | ENSP00000352154.5:p.Met10208Val | |
| ENST00000460472.6:c.30247A>G (TTN) | ENSP00000434586.1:p.Met10083Val | |
| ENST00000589042.5:c.57442A>G (TTN) MANE Select | ENSP00000467141.1:p.Met19148Val | |
| ENST00000591111.5:c.52519A>G (TTN) | ENSP00000465570.1:p.Met17507Val | |
| ENST00000615779.4:c.52519A>G (TTN) | ENSP00000483597.1:p.Met17507Val | |
| NM_001256850.1:c.52519A>G (TTN) | NP_001243779.1:p.Met17507Val | |
| NM_001267550.2:c.57442A>G (TTN) MANE Select | NP_001254479.2:p.Met19148Val | |
| NM_003319.4:c.30247A>G (TTN) | NP_003310.4:p.Met10083Val | |
| NM_133378.4:c.49738A>G (TTN) | NP_596869.4:p.Met16580Val | |
| NM_133432.3:c.30622A>G (TTN) | NP_597676.3:p.Met10208Val | |
| NM_133437.4:c.30823A>G (TTN) | NP_597681.4:p.Met10275Val | |
| NR_038271.1:n.641T>C (TTN-AS1) | ||
| NR_038272.1:n.3409T>C (TTN-AS1) | ||
| XM_011511729.1:c.56539A>G (TTN) | XP_011510031.1:p.Met18847Val | |
| XM_011511730.1:c.30433A>G (TTN) | XP_011510032.1:p.Met10145Val | |
| XM_011511731.1:c.30292A>G (TTN) | XP_011510033.1:p.Met10098Val | |
| XM_017004819.1:c.56335A>G (TTN) | XP_016860308.1:p.Met18779Val | |
| XM_017004820.1:c.51733A>G (TTN) | XP_016860309.1:p.Met17245Val | |
| XM_017004821.1:c.51730A>G (TTN) | XP_016860310.1:p.Met17244Val | |
| XM_017004822.1:c.48772A>G (TTN) | XP_016860311.1:p.Met16258Val | |
| XM_017004823.1:c.30388A>G (TTN) | XP_016860312.1:p.Met10130Val | |
| XM_024453094.1:c.51883A>G (TTN) | XP_024308862.1:p.Met17295Val | |
| XM_024453095.1:c.51880A>G (TTN) | XP_024308863.1:p.Met17294Val | |
| XM_024453096.1:c.51313A>G (TTN) | XP_024308864.1:p.Met17105Val | |
| XM_024453097.1:c.48655A>G (TTN) | XP_024308865.1:p.Met16219Val | |
| XM_024453098.1:c.48574A>G (TTN) | XP_024308866.1:p.Met16192Val | |
| XM_024453099.1:c.30337A>G (TTN) | XP_024308867.1:p.Met10113Val | |
| XM_024453100.1:c.20191A>G (TTN) | XP_024308868.1:p.Met6731Val |