Linked Data
ClinVar Variation Id:
47621
ClinVar RCV Id:
RCV000040890
RCV000242155
RCV000206544
RCV000301140
RCV000297253
RCV000354426
RCV000367561
RCV000390707
RCV000390934
RCV000725311
RCV004534953
RCV001798207
dbSNP Id:
rs72648278
ExAC:
2:179401935 C / T
gnomAD v2:
2-179401935-C-T
gnomAD v3:
2-178537208-C-T
gnomAD v4:
2-178537208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537208C>T , CM000664.2:g.178537208C>T | GRCh38 |
| NC_000002.11:g.179401935C>T , CM000664.1:g.179401935C>T | GRCh37 |
| NC_000002.10:g.179110181C>T | NCBI36 |
| NG_011618.3:g.298595G>A , LRG_391:g.298595G>A | |
| NG_051363.1:g.19382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92197G>A (TTN) | ENSP00000343764.6:p.Glu30733Lys | |
| ENST00000342175.11:c.73282G>A (TTN) | ENSP00000340554.6:p.Glu24428Lys | |
| ENST00000359218.10:c.73081G>A (TTN) | ENSP00000352154.5:p.Glu24361Lys | |
| ENST00000342175.10:c.73282G>A (TTN) | ENSP00000340554.6:p.Glu24428Lys | |
| ENST00000342992.10:c.92197G>A (TTN) | ENSP00000343764.6:p.Glu30733Lys | |
| ENST00000359218.9:c.73081G>A (TTN) | ENSP00000352154.5:p.Glu24361Lys | |
| ENST00000460472.6:c.72706G>A (TTN) | ENSP00000434586.1:p.Glu24236Lys | |
| ENST00000589042.5:c.99901G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu33301Lys | |
| ENST00000591111.5:c.94978G>A (TTN) | ENSP00000465570.1:p.Glu31660Lys | |
| ENST00000615779.4:c.94978G>A (TTN) | ENSP00000483597.1:p.Glu31660Lys | |
| NM_001256850.1:c.94978G>A (TTN) | NP_001243779.1:p.Glu31660Lys | |
| NM_001267550.2:c.99901G>A (TTN) MANE Select | NP_001254479.2:p.Glu33301Lys | |
| NM_003319.4:c.72706G>A (TTN) | NP_003310.4:p.Glu24236Lys | |
| NM_133378.4:c.92197G>A (TTN) | NP_596869.4:p.Glu30733Lys | |
| NM_133432.3:c.73081G>A (TTN) | NP_597676.3:p.Glu24361Lys | |
| NM_133437.4:c.73282G>A (TTN) | NP_597681.4:p.Glu24428Lys | |
| NR_038271.1:n.446+13572C>T (TTN-AS1) | ||
| NR_038272.1:n.317-153C>T (TTN-AS1) | ||
| XM_011511729.1:c.98998G>A (TTN) | XP_011510031.1:p.Glu33000Lys | |
| XM_011511730.1:c.72892G>A (TTN) | XP_011510032.1:p.Glu24298Lys | |
| XM_011511731.1:c.72751G>A (TTN) | XP_011510033.1:p.Glu24251Lys | |
| XM_017004819.1:c.98794G>A (TTN) | XP_016860308.1:p.Glu32932Lys | |
| XM_017004820.1:c.94192G>A (TTN) | XP_016860309.1:p.Glu31398Lys | |
| XM_017004821.1:c.94189G>A (TTN) | XP_016860310.1:p.Glu31397Lys | |
| XM_017004822.1:c.91231G>A (TTN) | XP_016860311.1:p.Glu30411Lys | |
| XM_017004823.1:c.72847G>A (TTN) | XP_016860312.1:p.Glu24283Lys | |
| XM_024453094.1:c.94342G>A (TTN) | XP_024308862.1:p.Glu31448Lys | |
| XM_024453095.1:c.94339G>A (TTN) | XP_024308863.1:p.Glu31447Lys | |
| XM_024453096.1:c.93772G>A (TTN) | XP_024308864.1:p.Glu31258Lys | |
| XM_024453097.1:c.91114G>A (TTN) | XP_024308865.1:p.Glu30372Lys | |
| XM_024453098.1:c.91033G>A (TTN) | XP_024308866.1:p.Glu30345Lys | |
| XM_024453099.1:c.72796G>A (TTN) | XP_024308867.1:p.Glu24266Lys | |
| XM_024453100.1:c.62650G>A (TTN) | XP_024308868.1:p.Glu20884Lys |