Linked Data
ClinVar Variation Id:
167756
ClinVar RCV Id:
RCV000154873
RCV000289664
RCV000336674
RCV000284033
RCV000376165
RCV000405890
RCV000342470
RCV000617769
RCV001085767
RCV000723860
RCV001798491
dbSNP Id:
rs56173891
ExAC:
2:179398591 T / C
gnomAD v2:
2-179398591-T-C
gnomAD v3:
2-178533864-T-C
gnomAD v4:
2-178533864-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533864T>C , CM000664.2:g.178533864T>C | GRCh38 |
| NC_000002.11:g.179398591T>C , CM000664.1:g.179398591T>C | GRCh37 |
| NC_000002.10:g.179106837T>C | NCBI36 |
| NG_011618.3:g.301939A>G , LRG_391:g.301939A>G | |
| NG_051363.1:g.16038T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95047A>G (TTN) | ENSP00000343764.6:p.Met31683Val | |
| ENST00000342175.11:c.76132A>G (TTN) | ENSP00000340554.6:p.Met25378Val | |
| ENST00000359218.10:c.75931A>G (TTN) | ENSP00000352154.5:p.Met25311Val | |
| ENST00000342175.10:c.76132A>G (TTN) | ENSP00000340554.6:p.Met25378Val | |
| ENST00000342992.10:c.95047A>G (TTN) | ENSP00000343764.6:p.Met31683Val | |
| ENST00000359218.9:c.75931A>G (TTN) | ENSP00000352154.5:p.Met25311Val | |
| ENST00000460472.6:c.75556A>G (TTN) | ENSP00000434586.1:p.Met25186Val | |
| ENST00000589042.5:c.102751A>G (TTN) MANE Select | ENSP00000467141.1:p.Met34251Val | |
| ENST00000591111.5:c.97828A>G (TTN) | ENSP00000465570.1:p.Met32610Val | |
| ENST00000615779.4:c.97828A>G (TTN) | ENSP00000483597.1:p.Met32610Val | |
| NM_001256850.1:c.97828A>G (TTN) | NP_001243779.1:p.Met32610Val | |
| NM_001267550.2:c.102751A>G (TTN) MANE Select | NP_001254479.2:p.Met34251Val | |
| NM_003319.4:c.75556A>G (TTN) | NP_003310.4:p.Met25186Val | |
| NM_133378.4:c.95047A>G (TTN) | NP_596869.4:p.Met31683Val | |
| NM_133432.3:c.75931A>G (TTN) | NP_597676.3:p.Met25311Val | |
| NM_133437.4:c.76132A>G (TTN) | NP_597681.4:p.Met25378Val | |
| NR_038271.1:n.446+10228T>C (TTN-AS1) | ||
| NR_038272.1:n.220-1868T>C (TTN-AS1) | ||
| XM_011511729.1:c.101848A>G (TTN) | XP_011510031.1:p.Met33950Val | |
| XM_011511730.1:c.75742A>G (TTN) | XP_011510032.1:p.Met25248Val | |
| XM_011511731.1:c.75601A>G (TTN) | XP_011510033.1:p.Met25201Val | |
| XM_017004819.1:c.101644A>G (TTN) | XP_016860308.1:p.Met33882Val | |
| XM_017004820.1:c.97042A>G (TTN) | XP_016860309.1:p.Met32348Val | |
| XM_017004821.1:c.97039A>G (TTN) | XP_016860310.1:p.Met32347Val | |
| XM_017004822.1:c.94081A>G (TTN) | XP_016860311.1:p.Met31361Val | |
| XM_017004823.1:c.75697A>G (TTN) | XP_016860312.1:p.Met25233Val | |
| XM_024453094.1:c.97192A>G (TTN) | XP_024308862.1:p.Met32398Val | |
| XM_024453095.1:c.97189A>G (TTN) | XP_024308863.1:p.Met32397Val | |
| XM_024453096.1:c.96622A>G (TTN) | XP_024308864.1:p.Met32208Val | |
| XM_024453097.1:c.93964A>G (TTN) | XP_024308865.1:p.Met31322Val | |
| XM_024453098.1:c.93883A>G (TTN) | XP_024308866.1:p.Met31295Val | |
| XM_024453099.1:c.75646A>G (TTN) | XP_024308867.1:p.Met25216Val | |
| XM_024453100.1:c.65500A>G (TTN) | XP_024308868.1:p.Met21834Val |