Linked Data
ClinVar Variation Id:
203055
ClinVar RCV Id:
RCV000299494
RCV000369666
RCV000356693
RCV000524719
RCV000331220
RCV000390641
RCV000713946
RCV000764298
RCV000621440
RCV002282013
RCV001270048
RCV003486755
dbSNP Id:
rs372304158
ExAC:
2:179401042 A / C
gnomAD v2:
2-179401042-A-C
gnomAD v3:
2-178536315-A-C
gnomAD v4:
2-178536315-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536315A>C , CM000664.2:g.178536315A>C | GRCh38 |
| NC_000002.11:g.179401042A>C , CM000664.1:g.179401042A>C | GRCh37 |
| NC_000002.10:g.179109288A>C | NCBI36 |
| NG_011618.3:g.299488T>G , LRG_391:g.299488T>G | |
| NG_051363.1:g.18489A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92728T>G (TTN) | ENSP00000343764.6:p.Trp30910Gly | |
| ENST00000342175.11:c.73813T>G (TTN) | ENSP00000340554.6:p.Trp24605Gly | |
| ENST00000359218.10:c.73612T>G (TTN) | ENSP00000352154.5:p.Trp24538Gly | |
| ENST00000342175.10:c.73813T>G (TTN) | ENSP00000340554.6:p.Trp24605Gly | |
| ENST00000342992.10:c.92728T>G (TTN) | ENSP00000343764.6:p.Trp30910Gly | |
| ENST00000359218.9:c.73612T>G (TTN) | ENSP00000352154.5:p.Trp24538Gly | |
| ENST00000460472.6:c.73237T>G (TTN) | ENSP00000434586.1:p.Trp24413Gly | |
| ENST00000589042.5:c.100432T>G (TTN) MANE Select | ENSP00000467141.1:p.Trp33478Gly | |
| ENST00000591111.5:c.95509T>G (TTN) | ENSP00000465570.1:p.Trp31837Gly | |
| ENST00000615779.4:c.95509T>G (TTN) | ENSP00000483597.1:p.Trp31837Gly | |
| NM_001256850.1:c.95509T>G (TTN) | NP_001243779.1:p.Trp31837Gly | |
| NM_001267550.2:c.100432T>G (TTN) MANE Select | NP_001254479.2:p.Trp33478Gly | |
| NM_003319.4:c.73237T>G (TTN) | NP_003310.4:p.Trp24413Gly | |
| NM_133378.4:c.92728T>G (TTN) | NP_596869.4:p.Trp30910Gly | |
| NM_133432.3:c.73612T>G (TTN) | NP_597676.3:p.Trp24538Gly | |
| NM_133437.4:c.73813T>G (TTN) | NP_597681.4:p.Trp24605Gly | |
| NR_038271.1:n.446+12679A>C (TTN-AS1) | ||
| NR_038272.1:n.316+487A>C (TTN-AS1) | ||
| XM_011511729.1:c.99529T>G (TTN) | XP_011510031.1:p.Trp33177Gly | |
| XM_011511730.1:c.73423T>G (TTN) | XP_011510032.1:p.Trp24475Gly | |
| XM_011511731.1:c.73282T>G (TTN) | XP_011510033.1:p.Trp24428Gly | |
| XM_017004819.1:c.99325T>G (TTN) | XP_016860308.1:p.Trp33109Gly | |
| XM_017004820.1:c.94723T>G (TTN) | XP_016860309.1:p.Trp31575Gly | |
| XM_017004821.1:c.94720T>G (TTN) | XP_016860310.1:p.Trp31574Gly | |
| XM_017004822.1:c.91762T>G (TTN) | XP_016860311.1:p.Trp30588Gly | |
| XM_017004823.1:c.73378T>G (TTN) | XP_016860312.1:p.Trp24460Gly | |
| XM_024453094.1:c.94873T>G (TTN) | XP_024308862.1:p.Trp31625Gly | |
| XM_024453095.1:c.94870T>G (TTN) | XP_024308863.1:p.Trp31624Gly | |
| XM_024453096.1:c.94303T>G (TTN) | XP_024308864.1:p.Trp31435Gly | |
| XM_024453097.1:c.91645T>G (TTN) | XP_024308865.1:p.Trp30549Gly | |
| XM_024453098.1:c.91564T>G (TTN) | XP_024308866.1:p.Trp30522Gly | |
| XM_024453099.1:c.73327T>G (TTN) | XP_024308867.1:p.Trp24443Gly | |
| XM_024453100.1:c.63181T>G (TTN) | XP_024308868.1:p.Trp21061Gly |