Linked Data
ClinVar Variation Id:
47473
ClinVar RCV Id:
RCV000040742
RCV000270510
RCV000327903
RCV000362829
RCV000384731
RCV000334082
RCV000618175
RCV000475243
RCV000725444
RCV001798192
dbSNP Id:
rs183013408
ExAC:
2:179421791 C / T
gnomAD v2:
2-179421791-C-T
gnomAD v3:
2-178557064-C-T
gnomAD v4:
2-178557064-C-T
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557064C>T , CM000664.2:g.178557064C>T | GRCh38 |
| NC_000002.11:g.179421791C>T , CM000664.1:g.179421791C>T | GRCh37 |
| NC_000002.10:g.179130037C>T | NCBI36 |
| NG_011618.3:g.278739G>A , LRG_391:g.278739G>A | |
| NG_051363.1:g.39238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80386G>A (TTN) | ENSP00000343764.6:p.Gly26796Ser | |
| ENST00000342175.11:c.61471G>A (TTN) | ENSP00000340554.6:p.Gly20491Ser | |
| ENST00000359218.10:c.61270G>A (TTN) | ENSP00000352154.5:p.Gly20424Ser | |
| ENST00000342175.10:c.61471G>A (TTN) | ENSP00000340554.6:p.Gly20491Ser | |
| ENST00000342992.10:c.80386G>A (TTN) | ENSP00000343764.6:p.Gly26796Ser | |
| ENST00000359218.9:c.61270G>A (TTN) | ENSP00000352154.5:p.Gly20424Ser | |
| ENST00000460472.6:c.60895G>A (TTN) | ENSP00000434586.1:p.Gly20299Ser | |
| ENST00000589042.5:c.88090G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly29364Ser | |
| ENST00000591111.5:c.83167G>A (TTN) | ENSP00000465570.1:p.Gly27723Ser | |
| ENST00000615779.4:c.83167G>A (TTN) | ENSP00000483597.1:p.Gly27723Ser | |
| NM_001256850.1:c.83167G>A (TTN) | NP_001243779.1:p.Gly27723Ser | |
| NM_001267550.2:c.88090G>A (TTN) MANE Select | NP_001254479.2:p.Gly29364Ser | |
| NM_003319.4:c.60895G>A (TTN) | NP_003310.4:p.Gly20299Ser | |
| NM_133378.4:c.80386G>A (TTN) | NP_596869.4:p.Gly26796Ser | |
| NM_133432.3:c.61270G>A (TTN) | NP_597676.3:p.Gly20424Ser | |
| NM_133437.4:c.61471G>A (TTN) | NP_597681.4:p.Gly20491Ser | |
| NR_038271.1:n.447-14236C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+14703C>T (TTN-AS1) | ||
| XM_011511729.1:c.87187G>A (TTN) | XP_011510031.1:p.Gly29063Ser | |
| XM_011511730.1:c.61081G>A (TTN) | XP_011510032.1:p.Gly20361Ser | |
| XM_011511731.1:c.60940G>A (TTN) | XP_011510033.1:p.Gly20314Ser | |
| XM_017004819.1:c.86983G>A (TTN) | XP_016860308.1:p.Gly28995Ser | |
| XM_017004820.1:c.82381G>A (TTN) | XP_016860309.1:p.Gly27461Ser | |
| XM_017004821.1:c.82378G>A (TTN) | XP_016860310.1:p.Gly27460Ser | |
| XM_017004822.1:c.79420G>A (TTN) | XP_016860311.1:p.Gly26474Ser | |
| XM_017004823.1:c.61036G>A (TTN) | XP_016860312.1:p.Gly20346Ser | |
| XM_024453094.1:c.82531G>A (TTN) | XP_024308862.1:p.Gly27511Ser | |
| XM_024453095.1:c.82528G>A (TTN) | XP_024308863.1:p.Gly27510Ser | |
| XM_024453096.1:c.81961G>A (TTN) | XP_024308864.1:p.Gly27321Ser | |
| XM_024453097.1:c.79303G>A (TTN) | XP_024308865.1:p.Gly26435Ser | |
| XM_024453098.1:c.79222G>A (TTN) | XP_024308866.1:p.Gly26408Ser | |
| XM_024453099.1:c.60985G>A (TTN) | XP_024308867.1:p.Gly20329Ser | |
| XM_024453100.1:c.50839G>A (TTN) | XP_024308868.1:p.Gly16947Ser |