Linked Data
ClinVar Variation Id:
96294
ClinVar RCV Id:
RCV000082414
RCV000230058
RCV000280893
RCV000284416
RCV000341274
RCV000319623
RCV000376497
RCV001553555
RCV003486641
RCV002453410
dbSNP Id:
rs199615557
ExAC:
2:179473074 G / C
gnomAD v2:
2-179473074-G-C
gnomAD v3:
2-178608347-G-C
gnomAD v4:
2-178608347-G-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608347G>C , CM000664.2:g.178608347G>C | GRCh38 |
| NC_000002.11:g.179473074G>C , CM000664.1:g.179473074G>C | GRCh37 |
| NC_000002.10:g.179181319G>C | NCBI36 |
| NG_011618.3:g.227456C>G , LRG_391:g.227456C>G | |
| NG_051363.1:g.90521G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44832C>G (TTN) | ENSP00000343764.6:p.Asn14944Lys | |
| ENST00000342175.11:c.25917C>G (TTN) | ENSP00000340554.6:p.Asn8639Lys | |
| ENST00000359218.10:c.25716C>G (TTN) | ENSP00000352154.5:p.Asn8572Lys | |
| ENST00000342175.10:c.25917C>G (TTN) | ENSP00000340554.6:p.Asn8639Lys | |
| ENST00000342992.10:c.44832C>G (TTN) | ENSP00000343764.6:p.Asn14944Lys | |
| ENST00000359218.9:c.25716C>G (TTN) | ENSP00000352154.5:p.Asn8572Lys | |
| ENST00000460472.6:c.25341C>G (TTN) | ENSP00000434586.1:p.Asn8447Lys | |
| ENST00000589042.5:c.52536C>G (TTN) MANE Select | ENSP00000467141.1:p.Asn17512Lys | |
| ENST00000591111.5:c.47613C>G (TTN) | ENSP00000465570.1:p.Asn15871Lys | |
| ENST00000615779.4:c.47613C>G (TTN) | ENSP00000483597.1:p.Asn15871Lys | |
| NM_001256850.1:c.47613C>G (TTN) | NP_001243779.1:p.Asn15871Lys | |
| NM_001267550.2:c.52536C>G (TTN) MANE Select | NP_001254479.2:p.Asn17512Lys | |
| NM_003319.4:c.25341C>G (TTN) | NP_003310.4:p.Asn8447Lys | |
| NM_133378.4:c.44832C>G (TTN) | NP_596869.4:p.Asn14944Lys | |
| NM_133432.3:c.25716C>G (TTN) | NP_597676.3:p.Asn8572Lys | |
| NM_133437.4:c.25917C>G (TTN) | NP_597681.4:p.Asn8639Lys | |
| NR_038271.1:n.782+81G>C (TTN-AS1) | ||
| XM_011511729.1:c.51633C>G (TTN) | XP_011510031.1:p.Asn17211Lys | |
| XM_011511730.1:c.25527C>G (TTN) | XP_011510032.1:p.Asn8509Lys | |
| XM_011511731.1:c.25386C>G (TTN) | XP_011510033.1:p.Asn8462Lys | |
| XM_017004819.1:c.51429C>G (TTN) | XP_016860308.1:p.Asn17143Lys | |
| XM_017004820.1:c.46827C>G (TTN) | XP_016860309.1:p.Asn15609Lys | |
| XM_017004821.1:c.46824C>G (TTN) | XP_016860310.1:p.Asn15608Lys | |
| XM_017004822.1:c.43866C>G (TTN) | XP_016860311.1:p.Asn14622Lys | |
| XM_017004823.1:c.25482C>G (TTN) | XP_016860312.1:p.Asn8494Lys | |
| XM_024453094.1:c.46977C>G (TTN) | XP_024308862.1:p.Asn15659Lys | |
| XM_024453095.1:c.46974C>G (TTN) | XP_024308863.1:p.Asn15658Lys | |
| XM_024453096.1:c.46407C>G (TTN) | XP_024308864.1:p.Asn15469Lys | |
| XM_024453097.1:c.43749C>G (TTN) | XP_024308865.1:p.Asn14583Lys | |
| XM_024453098.1:c.43668C>G (TTN) | XP_024308866.1:p.Asn14556Lys | |
| XM_024453099.1:c.25431C>G (TTN) | XP_024308867.1:p.Asn8477Lys | |
| XM_024453100.1:c.15285C>G (TTN) | XP_024308868.1:p.Asn5095Lys |