Linked Data
ClinVar Variation Id:
192153
dbSNP Id:
rs56391938
ExAC:
2:179433643 G / C
gnomAD v2:
2-179433643-G-C
gnomAD v3:
2-178568916-G-C
gnomAD v4:
2-178568916-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568916G>C , CM000664.2:g.178568916G>C | GRCh38 |
| NC_000002.11:g.179433643G>C , CM000664.1:g.179433643G>C | GRCh37 |
| NC_000002.10:g.179141889G>C | NCBI36 |
| NG_011618.3:g.266887C>G , LRG_391:g.266887C>G | |
| NG_051363.1:g.51090G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69512C>G (TTN) | ENSP00000343764.6:p.Ala23171Gly | |
| ENST00000342175.11:c.50597C>G (TTN) | ENSP00000340554.6:p.Ala16866Gly | |
| ENST00000359218.10:c.50396C>G (TTN) | ENSP00000352154.5:p.Ala16799Gly | |
| ENST00000342175.10:c.50597C>G (TTN) | ENSP00000340554.6:p.Ala16866Gly | |
| ENST00000342992.10:c.69512C>G (TTN) | ENSP00000343764.6:p.Ala23171Gly | |
| ENST00000359218.9:c.50396C>G (TTN) | ENSP00000352154.5:p.Ala16799Gly | |
| ENST00000460472.6:c.50021C>G (TTN) | ENSP00000434586.1:p.Ala16674Gly | |
| ENST00000589042.5:c.77216C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala25739Gly | |
| ENST00000591111.5:c.72293C>G (TTN) | ENSP00000465570.1:p.Ala24098Gly | |
| ENST00000615779.4:c.72293C>G (TTN) | ENSP00000483597.1:p.Ala24098Gly | |
| NM_001256850.1:c.72293C>G (TTN) | NP_001243779.1:p.Ala24098Gly | |
| NM_001267550.2:c.77216C>G (TTN) MANE Select | NP_001254479.2:p.Ala25739Gly | |
| NM_003319.4:c.50021C>G (TTN) | NP_003310.4:p.Ala16674Gly | |
| NM_133378.4:c.69512C>G (TTN) | NP_596869.4:p.Ala23171Gly | |
| NM_133432.3:c.50396C>G (TTN) | NP_597676.3:p.Ala16799Gly | |
| NM_133437.4:c.50597C>G (TTN) | NP_597681.4:p.Ala16866Gly | |
| NR_038271.1:n.447-2384G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-13656G>C (TTN-AS1) | ||
| XM_011511729.1:c.76313C>G (TTN) | XP_011510031.1:p.Ala25438Gly | |
| XM_011511730.1:c.50207C>G (TTN) | XP_011510032.1:p.Ala16736Gly | |
| XM_011511731.1:c.50066C>G (TTN) | XP_011510033.1:p.Ala16689Gly | |
| XM_017004819.1:c.76109C>G (TTN) | XP_016860308.1:p.Ala25370Gly | |
| XM_017004820.1:c.71507C>G (TTN) | XP_016860309.1:p.Ala23836Gly | |
| XM_017004821.1:c.71504C>G (TTN) | XP_016860310.1:p.Ala23835Gly | |
| XM_017004822.1:c.68546C>G (TTN) | XP_016860311.1:p.Ala22849Gly | |
| XM_017004823.1:c.50162C>G (TTN) | XP_016860312.1:p.Ala16721Gly | |
| XM_024453094.1:c.71657C>G (TTN) | XP_024308862.1:p.Ala23886Gly | |
| XM_024453095.1:c.71654C>G (TTN) | XP_024308863.1:p.Ala23885Gly | |
| XM_024453096.1:c.71087C>G (TTN) | XP_024308864.1:p.Ala23696Gly | |
| XM_024453097.1:c.68429C>G (TTN) | XP_024308865.1:p.Ala22810Gly | |
| XM_024453098.1:c.68348C>G (TTN) | XP_024308866.1:p.Ala22783Gly | |
| XM_024453099.1:c.50111C>G (TTN) | XP_024308867.1:p.Ala16704Gly | |
| XM_024453100.1:c.39965C>G (TTN) | XP_024308868.1:p.Ala13322Gly |