Linked Data
ClinVar Variation Id:
332817
ClinVar RCV Id:
RCV000281500
RCV000293984
RCV000338846
RCV000351260
RCV000386335
RCV001565788
RCV002450899
dbSNP Id:
rs541930965
ExAC:
2:179455082 T / G
gnomAD v2:
2-179455082-T-G
gnomAD v3:
2-178590355-T-G
gnomAD v4:
2-178590355-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590355T>G , CM000664.2:g.178590355T>G | GRCh38 |
| NC_000002.11:g.179455082T>G , CM000664.1:g.179455082T>G | GRCh37 |
| NC_000002.10:g.179163328T>G | NCBI36 |
| NG_011618.3:g.245448A>C , LRG_391:g.245448A>C | |
| NG_051363.1:g.72529T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53666A>C (TTN) | ENSP00000343764.6:p.Glu17889Ala | |
| ENST00000342175.11:c.34751A>C (TTN) | ENSP00000340554.6:p.Glu11584Ala | |
| ENST00000359218.10:c.34550A>C (TTN) | ENSP00000352154.5:p.Glu11517Ala | |
| ENST00000342175.10:c.34751A>C (TTN) | ENSP00000340554.6:p.Glu11584Ala | |
| ENST00000342992.10:c.53666A>C (TTN) | ENSP00000343764.6:p.Glu17889Ala | |
| ENST00000359218.9:c.34550A>C (TTN) | ENSP00000352154.5:p.Glu11517Ala | |
| ENST00000460472.6:c.34175A>C (TTN) | ENSP00000434586.1:p.Glu11392Ala | |
| ENST00000589042.5:c.61370A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu20457Ala | |
| ENST00000591111.5:c.56447A>C (TTN) | ENSP00000465570.1:p.Glu18816Ala | |
| ENST00000615779.4:c.56447A>C (TTN) | ENSP00000483597.1:p.Glu18816Ala | |
| NM_001256850.1:c.56447A>C (TTN) | NP_001243779.1:p.Glu18816Ala | |
| NM_001267550.2:c.61370A>C (TTN) MANE Select | NP_001254479.2:p.Glu20457Ala | |
| NM_003319.4:c.34175A>C (TTN) | NP_003310.4:p.Glu11392Ala | |
| NM_133378.4:c.53666A>C (TTN) | NP_596869.4:p.Glu17889Ala | |
| NM_133432.3:c.34550A>C (TTN) | NP_597676.3:p.Glu11517Ala | |
| NM_133437.4:c.34751A>C (TTN) | NP_597681.4:p.Glu11584Ala | |
| NR_038271.1:n.597-7241T>G (TTN-AS1) | ||
| NR_038272.1:n.3189-784T>G (TTN-AS1) | ||
| XM_011511729.1:c.60467A>C (TTN) | XP_011510031.1:p.Glu20156Ala | |
| XM_011511730.1:c.34361A>C (TTN) | XP_011510032.1:p.Glu11454Ala | |
| XM_011511731.1:c.34220A>C (TTN) | XP_011510033.1:p.Glu11407Ala | |
| XM_017004819.1:c.60263A>C (TTN) | XP_016860308.1:p.Glu20088Ala | |
| XM_017004820.1:c.55661A>C (TTN) | XP_016860309.1:p.Glu18554Ala | |
| XM_017004821.1:c.55658A>C (TTN) | XP_016860310.1:p.Glu18553Ala | |
| XM_017004822.1:c.52700A>C (TTN) | XP_016860311.1:p.Glu17567Ala | |
| XM_017004823.1:c.34316A>C (TTN) | XP_016860312.1:p.Glu11439Ala | |
| XM_024453094.1:c.55811A>C (TTN) | XP_024308862.1:p.Glu18604Ala | |
| XM_024453095.1:c.55808A>C (TTN) | XP_024308863.1:p.Glu18603Ala | |
| XM_024453096.1:c.55241A>C (TTN) | XP_024308864.1:p.Glu18414Ala | |
| XM_024453097.1:c.52583A>C (TTN) | XP_024308865.1:p.Glu17528Ala | |
| XM_024453098.1:c.52502A>C (TTN) | XP_024308866.1:p.Glu17501Ala | |
| XM_024453099.1:c.34265A>C (TTN) | XP_024308867.1:p.Glu11422Ala | |
| XM_024453100.1:c.24119A>C (TTN) | XP_024308868.1:p.Glu8040Ala |