Linked Data
ClinVar Variation Id:
47248
ClinVar RCV Id:
RCV000040518
RCV000230180
RCV000260453
RCV000275767
RCV000318112
RCV000333256
RCV000368971
RCV000621791
RCV000852821
RCV001083546
RCV001170577
RCV002221193
RCV004541169
dbSNP Id:
rs72646873
ExAC:
2:179444915 A / G
gnomAD v2:
2-179444915-A-G
gnomAD v3:
2-178580188-A-G
gnomAD v4:
2-178580188-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580188A>G , CM000664.2:g.178580188A>G | GRCh38 |
| NC_000002.11:g.179444915A>G , CM000664.1:g.179444915A>G | GRCh37 |
| NC_000002.10:g.179153161A>G | NCBI36 |
| NG_011618.3:g.255615T>C , LRG_391:g.255615T>C | |
| NG_051363.1:g.62362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59395T>C (TTN) | ENSP00000343764.6:p.Ser19799Pro | |
| ENST00000342175.11:c.40480T>C (TTN) | ENSP00000340554.6:p.Ser13494Pro | |
| ENST00000359218.10:c.40279T>C (TTN) | ENSP00000352154.5:p.Ser13427Pro | |
| ENST00000342175.10:c.40480T>C (TTN) | ENSP00000340554.6:p.Ser13494Pro | |
| ENST00000342992.10:c.59395T>C (TTN) | ENSP00000343764.6:p.Ser19799Pro | |
| ENST00000359218.9:c.40279T>C (TTN) | ENSP00000352154.5:p.Ser13427Pro | |
| ENST00000460472.6:c.39904T>C (TTN) | ENSP00000434586.1:p.Ser13302Pro | |
| ENST00000589042.5:c.67099T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser22367Pro | |
| ENST00000591111.5:c.62176T>C (TTN) | ENSP00000465570.1:p.Ser20726Pro | |
| ENST00000615779.4:c.62176T>C (TTN) | ENSP00000483597.1:p.Ser20726Pro | |
| NM_001256850.1:c.62176T>C (TTN) | NP_001243779.1:p.Ser20726Pro | |
| NM_001267550.2:c.67099T>C (TTN) MANE Select | NP_001254479.2:p.Ser22367Pro | |
| NM_003319.4:c.39904T>C (TTN) | NP_003310.4:p.Ser13302Pro | |
| NM_133378.4:c.59395T>C (TTN) | NP_596869.4:p.Ser19799Pro | |
| NM_133432.3:c.40279T>C (TTN) | NP_597676.3:p.Ser13427Pro | |
| NM_133437.4:c.40480T>C (TTN) | NP_597681.4:p.Ser13494Pro | |
| NR_038271.1:n.596+8739A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-2384A>G (TTN-AS1) | ||
| XM_011511729.1:c.66196T>C (TTN) | XP_011510031.1:p.Ser22066Pro | |
| XM_011511730.1:c.40090T>C (TTN) | XP_011510032.1:p.Ser13364Pro | |
| XM_011511731.1:c.39949T>C (TTN) | XP_011510033.1:p.Ser13317Pro | |
| XM_017004819.1:c.65992T>C (TTN) | XP_016860308.1:p.Ser21998Pro | |
| XM_017004820.1:c.61390T>C (TTN) | XP_016860309.1:p.Ser20464Pro | |
| XM_017004821.1:c.61387T>C (TTN) | XP_016860310.1:p.Ser20463Pro | |
| XM_017004822.1:c.58429T>C (TTN) | XP_016860311.1:p.Ser19477Pro | |
| XM_017004823.1:c.40045T>C (TTN) | XP_016860312.1:p.Ser13349Pro | |
| XM_024453094.1:c.61540T>C (TTN) | XP_024308862.1:p.Ser20514Pro | |
| XM_024453095.1:c.61537T>C (TTN) | XP_024308863.1:p.Ser20513Pro | |
| XM_024453096.1:c.60970T>C (TTN) | XP_024308864.1:p.Ser20324Pro | |
| XM_024453097.1:c.58312T>C (TTN) | XP_024308865.1:p.Ser19438Pro | |
| XM_024453098.1:c.58231T>C (TTN) | XP_024308866.1:p.Ser19411Pro | |
| XM_024453099.1:c.39994T>C (TTN) | XP_024308867.1:p.Ser13332Pro | |
| XM_024453100.1:c.29848T>C (TTN) | XP_024308868.1:p.Ser9950Pro |