Linked Data
ClinVar Variation Id:
47318
ClinVar RCV Id:
RCV000040588
RCV000118779
RCV000249950
RCV000769952
RCV001083516
RCV001131595
RCV001131997
RCV001131999
RCV001131996
RCV001131998
dbSNP Id:
rs56201325
ExAC:
2:179437928 T / C
gnomAD v2:
2-179437928-T-C
gnomAD v3:
2-178573201-T-C
gnomAD v4:
2-178573201-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573201T>C , CM000664.2:g.178573201T>C | GRCh38 |
| NC_000002.11:g.179437928T>C , CM000664.1:g.179437928T>C | GRCh37 |
| NC_000002.10:g.179146174T>C | NCBI36 |
| NG_011618.3:g.262602A>G , LRG_391:g.262602A>G | |
| NG_051363.1:g.55375T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65227A>G (TTN) | ENSP00000343764.6:p.Thr21743Ala | |
| ENST00000342175.11:c.46312A>G (TTN) | ENSP00000340554.6:p.Thr15438Ala | |
| ENST00000359218.10:c.46111A>G (TTN) | ENSP00000352154.5:p.Thr15371Ala | |
| ENST00000342175.10:c.46312A>G (TTN) | ENSP00000340554.6:p.Thr15438Ala | |
| ENST00000342992.10:c.65227A>G (TTN) | ENSP00000343764.6:p.Thr21743Ala | |
| ENST00000359218.9:c.46111A>G (TTN) | ENSP00000352154.5:p.Thr15371Ala | |
| ENST00000460472.6:c.45736A>G (TTN) | ENSP00000434586.1:p.Thr15246Ala | |
| ENST00000589042.5:c.72931A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr24311Ala | |
| ENST00000591111.5:c.68008A>G (TTN) | ENSP00000465570.1:p.Thr22670Ala | |
| ENST00000615779.4:c.68008A>G (TTN) | ENSP00000483597.1:p.Thr22670Ala | |
| NM_001256850.1:c.68008A>G (TTN) | NP_001243779.1:p.Thr22670Ala | |
| NM_001267550.2:c.72931A>G (TTN) MANE Select | NP_001254479.2:p.Thr24311Ala | |
| NM_003319.4:c.45736A>G (TTN) | NP_003310.4:p.Thr15246Ala | |
| NM_133378.4:c.65227A>G (TTN) | NP_596869.4:p.Thr21743Ala | |
| NM_133432.3:c.46111A>G (TTN) | NP_597676.3:p.Thr15371Ala | |
| NM_133437.4:c.46312A>G (TTN) | NP_597681.4:p.Thr15438Ala | |
| NR_038271.1:n.596+1752T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-9371T>C (TTN-AS1) | ||
| XM_011511729.1:c.72028A>G (TTN) | XP_011510031.1:p.Thr24010Ala | |
| XM_011511730.1:c.45922A>G (TTN) | XP_011510032.1:p.Thr15308Ala | |
| XM_011511731.1:c.45781A>G (TTN) | XP_011510033.1:p.Thr15261Ala | |
| XM_017004819.1:c.71824A>G (TTN) | XP_016860308.1:p.Thr23942Ala | |
| XM_017004820.1:c.67222A>G (TTN) | XP_016860309.1:p.Thr22408Ala | |
| XM_017004821.1:c.67219A>G (TTN) | XP_016860310.1:p.Thr22407Ala | |
| XM_017004822.1:c.64261A>G (TTN) | XP_016860311.1:p.Thr21421Ala | |
| XM_017004823.1:c.45877A>G (TTN) | XP_016860312.1:p.Thr15293Ala | |
| XM_024453094.1:c.67372A>G (TTN) | XP_024308862.1:p.Thr22458Ala | |
| XM_024453095.1:c.67369A>G (TTN) | XP_024308863.1:p.Thr22457Ala | |
| XM_024453096.1:c.66802A>G (TTN) | XP_024308864.1:p.Thr22268Ala | |
| XM_024453097.1:c.64144A>G (TTN) | XP_024308865.1:p.Thr21382Ala | |
| XM_024453098.1:c.64063A>G (TTN) | XP_024308866.1:p.Thr21355Ala | |
| XM_024453099.1:c.45826A>G (TTN) | XP_024308867.1:p.Thr15276Ala | |
| XM_024453100.1:c.35680A>G (TTN) | XP_024308868.1:p.Thr11894Ala |