Linked Data
ClinVar Variation Id:
47053
ClinVar RCV Id:
RCV000040323
RCV000244693
RCV000301448
RCV000356210
RCV000370266
RCV000396718
RCV000406062
RCV000468433
dbSNP Id:
rs16866412
ExAC:
2:179474668 G / A
gnomAD v2:
2-179474668-G-A
gnomAD v3:
2-178609941-G-A
gnomAD v4:
2-178609941-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609941G>A , CM000664.2:g.178609941G>A | GRCh38 |
| NC_000002.11:g.179474668G>A , CM000664.1:g.179474668G>A | GRCh37 |
| NC_000002.10:g.179182913G>A | NCBI36 |
| NG_011618.3:g.225862C>T , LRG_391:g.225862C>T | |
| NG_051363.1:g.92115G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.43778C>T (TTN) | ENSP00000343764.6:p.Ala14593Val | |
| ENST00000342175.11:c.24863C>T (TTN) | ENSP00000340554.6:p.Ala8288Val | |
| ENST00000359218.10:c.24662C>T (TTN) | ENSP00000352154.5:p.Ala8221Val | |
| ENST00000342175.10:c.24863C>T (TTN) | ENSP00000340554.6:p.Ala8288Val | |
| ENST00000342992.10:c.43778C>T (TTN) | ENSP00000343764.6:p.Ala14593Val | |
| ENST00000359218.9:c.24662C>T (TTN) | ENSP00000352154.5:p.Ala8221Val | |
| ENST00000460472.6:c.24287C>T (TTN) | ENSP00000434586.1:p.Ala8096Val | |
| ENST00000589042.5:c.51482C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17161Val | |
| ENST00000591111.5:c.46559C>T (TTN) | ENSP00000465570.1:p.Ala15520Val | |
| ENST00000615779.4:c.46559C>T (TTN) | ENSP00000483597.1:p.Ala15520Val | |
| NM_001256850.1:c.46559C>T (TTN) | NP_001243779.1:p.Ala15520Val | |
| NM_001267550.2:c.51482C>T (TTN) MANE Select | NP_001254479.2:p.Ala17161Val | |
| NM_003319.4:c.24287C>T (TTN) | NP_003310.4:p.Ala8096Val | |
| NM_133378.4:c.43778C>T (TTN) | NP_596869.4:p.Ala14593Val | |
| NM_133432.3:c.24662C>T (TTN) | NP_597676.3:p.Ala8221Val | |
| NM_133437.4:c.24863C>T (TTN) | NP_597681.4:p.Ala8288Val | |
| NR_038271.1:n.782+1675G>A (TTN-AS1) | ||
| XM_011511729.1:c.50579C>T (TTN) | XP_011510031.1:p.Ala16860Val | |
| XM_011511730.1:c.24473C>T (TTN) | XP_011510032.1:p.Ala8158Val | |
| XM_011511731.1:c.24332C>T (TTN) | XP_011510033.1:p.Ala8111Val | |
| XM_017004819.1:c.50375C>T (TTN) | XP_016860308.1:p.Ala16792Val | |
| XM_017004820.1:c.45773C>T (TTN) | XP_016860309.1:p.Ala15258Val | |
| XM_017004821.1:c.45770C>T (TTN) | XP_016860310.1:p.Ala15257Val | |
| XM_017004822.1:c.42812C>T (TTN) | XP_016860311.1:p.Ala14271Val | |
| XM_017004823.1:c.24428C>T (TTN) | XP_016860312.1:p.Ala8143Val | |
| XM_024453094.1:c.45923C>T (TTN) | XP_024308862.1:p.Ala15308Val | |
| XM_024453095.1:c.45920C>T (TTN) | XP_024308863.1:p.Ala15307Val | |
| XM_024453096.1:c.45353C>T (TTN) | XP_024308864.1:p.Ala15118Val | |
| XM_024453097.1:c.42695C>T (TTN) | XP_024308865.1:p.Ala14232Val | |
| XM_024453098.1:c.42614C>T (TTN) | XP_024308866.1:p.Ala14205Val | |
| XM_024453099.1:c.24377C>T (TTN) | XP_024308867.1:p.Ala8126Val | |
| XM_024453100.1:c.14231C>T (TTN) | XP_024308868.1:p.Ala4744Val |