Linked Data
ClinVar Variation Id:
47542
ClinVar RCV Id:
RCV000040811
RCV000247537
RCV000277148
RCV000298221
RCV000353169
RCV000356392
RCV000390504
dbSNP Id:
rs397517759
ExAC:
2:179411526 T / C
gnomAD v2:
2-179411526-T-C
gnomAD v3:
2-178546799-T-C
gnomAD v4:
2-178546799-T-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546799T>C , CM000664.2:g.178546799T>C | GRCh38 |
| NC_000002.11:g.179411526T>C , CM000664.1:g.179411526T>C | GRCh37 |
| NC_000002.10:g.179119772T>C | NCBI36 |
| NG_011618.3:g.289004A>G , LRG_391:g.289004A>G | |
| NG_051363.1:g.28973T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86925A>G (TTN) | ENSP00000343764.6:p.Ile28975Met | |
| ENST00000342175.11:c.68010A>G (TTN) | ENSP00000340554.6:p.Ile22670Met | |
| ENST00000359218.10:c.67809A>G (TTN) | ENSP00000352154.5:p.Ile22603Met | |
| ENST00000342175.10:c.68010A>G (TTN) | ENSP00000340554.6:p.Ile22670Met | |
| ENST00000342992.10:c.86925A>G (TTN) | ENSP00000343764.6:p.Ile28975Met | |
| ENST00000359218.9:c.67809A>G (TTN) | ENSP00000352154.5:p.Ile22603Met | |
| ENST00000460472.6:c.67434A>G (TTN) | ENSP00000434586.1:p.Ile22478Met | |
| ENST00000589042.5:c.94629A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile31543Met | |
| ENST00000591111.5:c.89706A>G (TTN) | ENSP00000465570.1:p.Ile29902Met | |
| ENST00000615779.4:c.89706A>G (TTN) | ENSP00000483597.1:p.Ile29902Met | |
| NM_001256850.1:c.89706A>G (TTN) | NP_001243779.1:p.Ile29902Met | |
| NM_001267550.2:c.94629A>G (TTN) MANE Select | NP_001254479.2:p.Ile31543Met | |
| NM_003319.4:c.67434A>G (TTN) | NP_003310.4:p.Ile22478Met | |
| NM_133378.4:c.86925A>G (TTN) | NP_596869.4:p.Ile28975Met | |
| NM_133432.3:c.67809A>G (TTN) | NP_597676.3:p.Ile22603Met | |
| NM_133437.4:c.68010A>G (TTN) | NP_597681.4:p.Ile22670Met | |
| NR_038271.1:n.446+23163T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4438T>C (TTN-AS1) | ||
| XM_011511729.1:c.93726A>G (TTN) | XP_011510031.1:p.Ile31242Met | |
| XM_011511730.1:c.67620A>G (TTN) | XP_011510032.1:p.Ile22540Met | |
| XM_011511731.1:c.67479A>G (TTN) | XP_011510033.1:p.Ile22493Met | |
| XM_017004819.1:c.93522A>G (TTN) | XP_016860308.1:p.Ile31174Met | |
| XM_017004820.1:c.88920A>G (TTN) | XP_016860309.1:p.Ile29640Met | |
| XM_017004821.1:c.88917A>G (TTN) | XP_016860310.1:p.Ile29639Met | |
| XM_017004822.1:c.85959A>G (TTN) | XP_016860311.1:p.Ile28653Met | |
| XM_017004823.1:c.67575A>G (TTN) | XP_016860312.1:p.Ile22525Met | |
| XM_024453094.1:c.89070A>G (TTN) | XP_024308862.1:p.Ile29690Met | |
| XM_024453095.1:c.89067A>G (TTN) | XP_024308863.1:p.Ile29689Met | |
| XM_024453096.1:c.88500A>G (TTN) | XP_024308864.1:p.Ile29500Met | |
| XM_024453097.1:c.85842A>G (TTN) | XP_024308865.1:p.Ile28614Met | |
| XM_024453098.1:c.85761A>G (TTN) | XP_024308866.1:p.Ile28587Met | |
| XM_024453099.1:c.67524A>G (TTN) | XP_024308867.1:p.Ile22508Met | |
| XM_024453100.1:c.57378A>G (TTN) | XP_024308868.1:p.Ile19126Met |