Linked Data
ClinVar Variation Id:
47151
ClinVar RCV Id:
RCV000040421
RCV000278971
RCV000318896
RCV000373508
RCV000342659
RCV000386004
RCV000469487
RCV001530016
RCV002321526
RCV004534912
dbSNP Id:
rs188063446
ExAC:
2:179457524 T / C
gnomAD v2:
2-179457524-T-C
gnomAD v3:
2-178592797-T-C
gnomAD v4:
2-178592797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592797T>C , CM000664.2:g.178592797T>C | GRCh38 |
| NC_000002.11:g.179457524T>C , CM000664.1:g.179457524T>C | GRCh37 |
| NC_000002.10:g.179165770T>C | NCBI36 |
| NG_011618.3:g.243006A>G , LRG_391:g.243006A>G | |
| NG_051363.1:g.74971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51618A>G (TTN) | ENSP00000343764.6:p.Pro17206= | |
| ENST00000342175.11:c.32703A>G (TTN) | ENSP00000340554.6:p.Pro10901= | |
| ENST00000359218.10:c.32502A>G (TTN) | ENSP00000352154.5:p.Pro10834= | |
| ENST00000342175.10:c.32703A>G (TTN) | ENSP00000340554.6:p.Pro10901= | |
| ENST00000342992.10:c.51618A>G (TTN) | ENSP00000343764.6:p.Pro17206= | |
| ENST00000359218.9:c.32502A>G (TTN) | ENSP00000352154.5:p.Pro10834= | |
| ENST00000460472.6:c.32127A>G (TTN) | ENSP00000434586.1:p.Pro10709= | |
| ENST00000589042.5:c.59322A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro19774= | |
| ENST00000591111.5:c.54399A>G (TTN) | ENSP00000465570.1:p.Pro18133= | |
| ENST00000615779.4:c.54399A>G (TTN) | ENSP00000483597.1:p.Pro18133= | |
| NM_001256850.1:c.54399A>G (TTN) | NP_001243779.1:p.Pro18133= | |
| NM_001267550.2:c.59322A>G (TTN) MANE Select | NP_001254479.2:p.Pro19774= | |
| NM_003319.4:c.32127A>G (TTN) | NP_003310.4:p.Pro10709= | |
| NM_133378.4:c.51618A>G (TTN) | NP_596869.4:p.Pro17206= | |
| NM_133432.3:c.32502A>G (TTN) | NP_597676.3:p.Pro10834= | |
| NM_133437.4:c.32703A>G (TTN) | NP_597681.4:p.Pro10901= | |
| NR_038271.1:n.597-4799T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1483T>C (TTN-AS1) | ||
| XM_011511729.1:c.58419A>G (TTN) | XP_011510031.1:p.Pro19473= | |
| XM_011511730.1:c.32313A>G (TTN) | XP_011510032.1:p.Pro10771= | |
| XM_011511731.1:c.32172A>G (TTN) | XP_011510033.1:p.Pro10724= | |
| XM_017004819.1:c.58215A>G (TTN) | XP_016860308.1:p.Pro19405= | |
| XM_017004820.1:c.53613A>G (TTN) | XP_016860309.1:p.Pro17871= | |
| XM_017004821.1:c.53610A>G (TTN) | XP_016860310.1:p.Pro17870= | |
| XM_017004822.1:c.50652A>G (TTN) | XP_016860311.1:p.Pro16884= | |
| XM_017004823.1:c.32268A>G (TTN) | XP_016860312.1:p.Pro10756= | |
| XM_024453094.1:c.53763A>G (TTN) | XP_024308862.1:p.Pro17921= | |
| XM_024453095.1:c.53760A>G (TTN) | XP_024308863.1:p.Pro17920= | |
| XM_024453096.1:c.53193A>G (TTN) | XP_024308864.1:p.Pro17731= | |
| XM_024453097.1:c.50535A>G (TTN) | XP_024308865.1:p.Pro16845= | |
| XM_024453098.1:c.50454A>G (TTN) | XP_024308866.1:p.Pro16818= | |
| XM_024453099.1:c.32217A>G (TTN) | XP_024308867.1:p.Pro10739= | |
| XM_024453100.1:c.22071A>G (TTN) | XP_024308868.1:p.Pro7357= |