Linked Data
ClinVar Variation Id:
47025
ClinVar RCV Id:
RCV000040295
RCV000172665
RCV000247886
RCV000655929
RCV000768997
RCV001083138
RCV001131281
RCV001131282
RCV001130555
RCV001131280
dbSNP Id:
rs72677243
ExAC:
2:179479288 A / G
gnomAD v2:
2-179479288-A-G
gnomAD v3:
2-178614561-A-G
gnomAD v4:
2-178614561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614561A>G , CM000664.2:g.178614561A>G | GRCh38 |
| NC_000002.11:g.179479288A>G , CM000664.1:g.179479288A>G | GRCh37 |
| NC_000002.10:g.179187533A>G | NCBI36 |
| NG_011618.3:g.221242T>C , LRG_391:g.221242T>C | |
| NG_051363.1:g.96735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41249T>C (TTN) | ENSP00000343764.6:p.Ile13750Thr | |
| ENST00000342175.11:c.22334T>C (TTN) | ENSP00000340554.6:p.Ile7445Thr | |
| ENST00000359218.10:c.22133T>C (TTN) | ENSP00000352154.5:p.Ile7378Thr | |
| ENST00000342175.10:c.22334T>C (TTN) | ENSP00000340554.6:p.Ile7445Thr | |
| ENST00000342992.10:c.41249T>C (TTN) | ENSP00000343764.6:p.Ile13750Thr | |
| ENST00000359218.9:c.22133T>C (TTN) | ENSP00000352154.5:p.Ile7378Thr | |
| ENST00000460472.6:c.21758T>C (TTN) | ENSP00000434586.1:p.Ile7253Thr | |
| ENST00000589042.5:c.48953T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile16318Thr | |
| ENST00000591111.5:c.44030T>C (TTN) | ENSP00000465570.1:p.Ile14677Thr | |
| ENST00000615779.4:c.44030T>C (TTN) | ENSP00000483597.1:p.Ile14677Thr | |
| NM_001256850.1:c.44030T>C (TTN) | NP_001243779.1:p.Ile14677Thr | |
| NM_001267550.2:c.48953T>C (TTN) MANE Select | NP_001254479.2:p.Ile16318Thr | |
| NM_003319.4:c.21758T>C (TTN) | NP_003310.4:p.Ile7253Thr | |
| NM_133378.4:c.41249T>C (TTN) | NP_596869.4:p.Ile13750Thr | |
| NM_133432.3:c.22133T>C (TTN) | NP_597676.3:p.Ile7378Thr | |
| NM_133437.4:c.22334T>C (TTN) | NP_597681.4:p.Ile7445Thr | |
| NR_038271.1:n.1309A>G (TTN-AS1) | ||
| XM_011511729.1:c.48050T>C (TTN) | XP_011510031.1:p.Ile16017Thr | |
| XM_011511730.1:c.21944T>C (TTN) | XP_011510032.1:p.Ile7315Thr | |
| XM_011511731.1:c.21803T>C (TTN) | XP_011510033.1:p.Ile7268Thr | |
| XM_017004819.1:c.47846T>C (TTN) | XP_016860308.1:p.Ile15949Thr | |
| XM_017004820.1:c.43244T>C (TTN) | XP_016860309.1:p.Ile14415Thr | |
| XM_017004821.1:c.43241T>C (TTN) | XP_016860310.1:p.Ile14414Thr | |
| XM_017004822.1:c.40283T>C (TTN) | XP_016860311.1:p.Ile13428Thr | |
| XM_017004823.1:c.21899T>C (TTN) | XP_016860312.1:p.Ile7300Thr | |
| XM_024453094.1:c.43394T>C (TTN) | XP_024308862.1:p.Ile14465Thr | |
| XM_024453095.1:c.43391T>C (TTN) | XP_024308863.1:p.Ile14464Thr | |
| XM_024453096.1:c.42824T>C (TTN) | XP_024308864.1:p.Ile14275Thr | |
| XM_024453097.1:c.40166T>C (TTN) | XP_024308865.1:p.Ile13389Thr | |
| XM_024453098.1:c.40085T>C (TTN) | XP_024308866.1:p.Ile13362Thr | |
| XM_024453099.1:c.21848T>C (TTN) | XP_024308867.1:p.Ile7283Thr | |
| XM_024453100.1:c.11702T>C (TTN) | XP_024308868.1:p.Ile3901Thr |