Linked Data
ClinVar Variation Id:
191954
ClinVar RCV Id:
RCV000172322
RCV001128751
RCV001128752
RCV001128753
RCV001128754
RCV001135757
RCV001798614
dbSNP Id:
rs752629624
ExAC:
2:179480077 A / G
gnomAD v2:
2-179480077-A-G
gnomAD v3:
2-178615350-A-G
gnomAD v4:
2-178615350-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615350A>G , CM000664.2:g.178615350A>G | GRCh38 |
| NC_000002.11:g.179480077A>G , CM000664.1:g.179480077A>G | GRCh37 |
| NC_000002.10:g.179188322A>G | NCBI36 |
| NG_011618.3:g.220453T>C , LRG_391:g.220453T>C | |
| NG_051363.1:g.97524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40891T>C (TTN) | ENSP00000343764.6:p.Ser13631Pro | |
| ENST00000342175.11:c.21976T>C (TTN) | ENSP00000340554.6:p.Ser7326Pro | |
| ENST00000359218.10:c.21775T>C (TTN) | ENSP00000352154.5:p.Ser7259Pro | |
| ENST00000342175.10:c.21976T>C (TTN) | ENSP00000340554.6:p.Ser7326Pro | |
| ENST00000342992.10:c.40891T>C (TTN) | ENSP00000343764.6:p.Ser13631Pro | |
| ENST00000359218.9:c.21775T>C (TTN) | ENSP00000352154.5:p.Ser7259Pro | |
| ENST00000460472.6:c.21400T>C (TTN) | ENSP00000434586.1:p.Ser7134Pro | |
| ENST00000589042.5:c.48595T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser16199Pro | |
| ENST00000591111.5:c.43672T>C (TTN) | ENSP00000465570.1:p.Ser14558Pro | |
| ENST00000615779.4:c.43672T>C (TTN) | ENSP00000483597.1:p.Ser14558Pro | |
| NM_001256850.1:c.43672T>C (TTN) | NP_001243779.1:p.Ser14558Pro | |
| NM_001267550.2:c.48595T>C (TTN) MANE Select | NP_001254479.2:p.Ser16199Pro | |
| NM_003319.4:c.21400T>C (TTN) | NP_003310.4:p.Ser7134Pro | |
| NM_133378.4:c.40891T>C (TTN) | NP_596869.4:p.Ser13631Pro | |
| NM_133432.3:c.21775T>C (TTN) | NP_597676.3:p.Ser7259Pro | |
| NM_133437.4:c.21976T>C (TTN) | NP_597681.4:p.Ser7326Pro | |
| NR_038271.1:n.1580A>G (TTN-AS1) | ||
| XM_011511729.1:c.47692T>C (TTN) | XP_011510031.1:p.Ser15898Pro | |
| XM_011511730.1:c.21586T>C (TTN) | XP_011510032.1:p.Ser7196Pro | |
| XM_011511731.1:c.21445T>C (TTN) | XP_011510033.1:p.Ser7149Pro | |
| XM_017004819.1:c.47488T>C (TTN) | XP_016860308.1:p.Ser15830Pro | |
| XM_017004820.1:c.42886T>C (TTN) | XP_016860309.1:p.Ser14296Pro | |
| XM_017004821.1:c.42883T>C (TTN) | XP_016860310.1:p.Ser14295Pro | |
| XM_017004822.1:c.39925T>C (TTN) | XP_016860311.1:p.Ser13309Pro | |
| XM_017004823.1:c.21541T>C (TTN) | XP_016860312.1:p.Ser7181Pro | |
| XM_024453094.1:c.43036T>C (TTN) | XP_024308862.1:p.Ser14346Pro | |
| XM_024453095.1:c.43033T>C (TTN) | XP_024308863.1:p.Ser14345Pro | |
| XM_024453096.1:c.42466T>C (TTN) | XP_024308864.1:p.Ser14156Pro | |
| XM_024453097.1:c.39808T>C (TTN) | XP_024308865.1:p.Ser13270Pro | |
| XM_024453098.1:c.39727T>C (TTN) | XP_024308866.1:p.Ser13243Pro | |
| XM_024453099.1:c.21490T>C (TTN) | XP_024308867.1:p.Ser7164Pro | |
| XM_024453100.1:c.11344T>C (TTN) | XP_024308868.1:p.Ser3782Pro |