Linked Data
ClinVar Variation Id:
179045
dbSNP Id:
rs376455983
ExAC:
2:179454460 G / C
gnomAD v2:
2-179454460-G-C
gnomAD v3:
2-178589733-G-C
gnomAD v4:
2-178589733-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589733G>C , CM000664.2:g.178589733G>C | GRCh38 |
| NC_000002.11:g.179454460G>C , CM000664.1:g.179454460G>C | GRCh37 |
| NC_000002.10:g.179162706G>C | NCBI36 |
| NG_011618.3:g.246070C>G , LRG_391:g.246070C>G | |
| NG_051363.1:g.71907G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54288C>G (TTN) | ENSP00000343764.6:p.Asn18096Lys | |
| ENST00000342175.11:c.35373C>G (TTN) | ENSP00000340554.6:p.Asn11791Lys | |
| ENST00000359218.10:c.35172C>G (TTN) | ENSP00000352154.5:p.Asn11724Lys | |
| ENST00000342175.10:c.35373C>G (TTN) | ENSP00000340554.6:p.Asn11791Lys | |
| ENST00000342992.10:c.54288C>G (TTN) | ENSP00000343764.6:p.Asn18096Lys | |
| ENST00000359218.9:c.35172C>G (TTN) | ENSP00000352154.5:p.Asn11724Lys | |
| ENST00000460472.6:c.34797C>G (TTN) | ENSP00000434586.1:p.Asn11599Lys | |
| ENST00000589042.5:c.61992C>G (TTN) MANE Select | ENSP00000467141.1:p.Asn20664Lys | |
| ENST00000591111.5:c.57069C>G (TTN) | ENSP00000465570.1:p.Asn19023Lys | |
| ENST00000615779.4:c.57069C>G (TTN) | ENSP00000483597.1:p.Asn19023Lys | |
| NM_001256850.1:c.57069C>G (TTN) | NP_001243779.1:p.Asn19023Lys | |
| NM_001267550.2:c.61992C>G (TTN) MANE Select | NP_001254479.2:p.Asn20664Lys | |
| NM_003319.4:c.34797C>G (TTN) | NP_003310.4:p.Asn11599Lys | |
| NM_133378.4:c.54288C>G (TTN) | NP_596869.4:p.Asn18096Lys | |
| NM_133432.3:c.35172C>G (TTN) | NP_597676.3:p.Asn11724Lys | |
| NM_133437.4:c.35373C>G (TTN) | NP_597681.4:p.Asn11791Lys | |
| NR_038271.1:n.597-7863G>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1406G>C (TTN-AS1) | ||
| XM_011511729.1:c.61089C>G (TTN) | XP_011510031.1:p.Asn20363Lys | |
| XM_011511730.1:c.34983C>G (TTN) | XP_011510032.1:p.Asn11661Lys | |
| XM_011511731.1:c.34842C>G (TTN) | XP_011510033.1:p.Asn11614Lys | |
| XM_017004819.1:c.60885C>G (TTN) | XP_016860308.1:p.Asn20295Lys | |
| XM_017004820.1:c.56283C>G (TTN) | XP_016860309.1:p.Asn18761Lys | |
| XM_017004821.1:c.56280C>G (TTN) | XP_016860310.1:p.Asn18760Lys | |
| XM_017004822.1:c.53322C>G (TTN) | XP_016860311.1:p.Asn17774Lys | |
| XM_017004823.1:c.34938C>G (TTN) | XP_016860312.1:p.Asn11646Lys | |
| XM_024453094.1:c.56433C>G (TTN) | XP_024308862.1:p.Asn18811Lys | |
| XM_024453095.1:c.56430C>G (TTN) | XP_024308863.1:p.Asn18810Lys | |
| XM_024453096.1:c.55863C>G (TTN) | XP_024308864.1:p.Asn18621Lys | |
| XM_024453097.1:c.53205C>G (TTN) | XP_024308865.1:p.Asn17735Lys | |
| XM_024453098.1:c.53124C>G (TTN) | XP_024308866.1:p.Asn17708Lys | |
| XM_024453099.1:c.34887C>G (TTN) | XP_024308867.1:p.Asn11629Lys | |
| XM_024453100.1:c.24741C>G (TTN) | XP_024308868.1:p.Asn8247Lys |