Linked Data
ClinVar Variation Id:
191914
dbSNP Id:
rs201223583
ExAC:
2:179444692 T / C
gnomAD v2:
2-179444692-T-C
gnomAD v3:
2-178579965-T-C
gnomAD v4:
2-178579965-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579965T>C , CM000664.2:g.178579965T>C | GRCh38 |
| NC_000002.11:g.179444692T>C , CM000664.1:g.179444692T>C | GRCh37 |
| NC_000002.10:g.179152938T>C | NCBI36 |
| NG_011618.3:g.255838A>G , LRG_391:g.255838A>G | |
| NG_051363.1:g.62139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59618A>G (TTN) | ENSP00000343764.6:p.Glu19873Gly | |
| ENST00000342175.11:c.40703A>G (TTN) | ENSP00000340554.6:p.Glu13568Gly | |
| ENST00000359218.10:c.40502A>G (TTN) | ENSP00000352154.5:p.Glu13501Gly | |
| ENST00000342175.10:c.40703A>G (TTN) | ENSP00000340554.6:p.Glu13568Gly | |
| ENST00000342992.10:c.59618A>G (TTN) | ENSP00000343764.6:p.Glu19873Gly | |
| ENST00000359218.9:c.40502A>G (TTN) | ENSP00000352154.5:p.Glu13501Gly | |
| ENST00000460472.6:c.40127A>G (TTN) | ENSP00000434586.1:p.Glu13376Gly | |
| ENST00000589042.5:c.67322A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu22441Gly | |
| ENST00000591111.5:c.62399A>G (TTN) | ENSP00000465570.1:p.Glu20800Gly | |
| ENST00000615779.4:c.62399A>G (TTN) | ENSP00000483597.1:p.Glu20800Gly | |
| NM_001256850.1:c.62399A>G (TTN) | NP_001243779.1:p.Glu20800Gly | |
| NM_001267550.2:c.67322A>G (TTN) MANE Select | NP_001254479.2:p.Glu22441Gly | |
| NM_003319.4:c.40127A>G (TTN) | NP_003310.4:p.Glu13376Gly | |
| NM_133378.4:c.59618A>G (TTN) | NP_596869.4:p.Glu19873Gly | |
| NM_133432.3:c.40502A>G (TTN) | NP_597676.3:p.Glu13501Gly | |
| NM_133437.4:c.40703A>G (TTN) | NP_597681.4:p.Glu13568Gly | |
| NR_038271.1:n.596+8516T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-2607T>C (TTN-AS1) | ||
| XM_011511729.1:c.66419A>G (TTN) | XP_011510031.1:p.Glu22140Gly | |
| XM_011511730.1:c.40313A>G (TTN) | XP_011510032.1:p.Glu13438Gly | |
| XM_011511731.1:c.40172A>G (TTN) | XP_011510033.1:p.Glu13391Gly | |
| XM_017004819.1:c.66215A>G (TTN) | XP_016860308.1:p.Glu22072Gly | |
| XM_017004820.1:c.61613A>G (TTN) | XP_016860309.1:p.Glu20538Gly | |
| XM_017004821.1:c.61610A>G (TTN) | XP_016860310.1:p.Glu20537Gly | |
| XM_017004822.1:c.58652A>G (TTN) | XP_016860311.1:p.Glu19551Gly | |
| XM_017004823.1:c.40268A>G (TTN) | XP_016860312.1:p.Glu13423Gly | |
| XM_024453094.1:c.61763A>G (TTN) | XP_024308862.1:p.Glu20588Gly | |
| XM_024453095.1:c.61760A>G (TTN) | XP_024308863.1:p.Glu20587Gly | |
| XM_024453096.1:c.61193A>G (TTN) | XP_024308864.1:p.Glu20398Gly | |
| XM_024453097.1:c.58535A>G (TTN) | XP_024308865.1:p.Glu19512Gly | |
| XM_024453098.1:c.58454A>G (TTN) | XP_024308866.1:p.Glu19485Gly | |
| XM_024453099.1:c.40217A>G (TTN) | XP_024308867.1:p.Glu13406Gly | |
| XM_024453100.1:c.30071A>G (TTN) | XP_024308868.1:p.Glu10024Gly |