Linked Data
ClinVar Variation Id:
195925
dbSNP Id:
rs371514555
ExAC:
2:179451290 A / G
gnomAD v2:
2-179451290-A-G
gnomAD v3:
2-178586563-A-G
gnomAD v4:
2-178586563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586563A>G , CM000664.2:g.178586563A>G | GRCh38 |
| NC_000002.11:g.179451290A>G , CM000664.1:g.179451290A>G | GRCh37 |
| NC_000002.10:g.179159536A>G | NCBI36 |
| NG_011618.3:g.249240T>C , LRG_391:g.249240T>C | |
| NG_051363.1:g.68737A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56634T>C (TTN) | ENSP00000343764.6:p.Ala18878= | |
| ENST00000342175.11:c.37719T>C (TTN) | ENSP00000340554.6:p.Ala12573= | |
| ENST00000359218.10:c.37518T>C (TTN) | ENSP00000352154.5:p.Ala12506= | |
| ENST00000342175.10:c.37719T>C (TTN) | ENSP00000340554.6:p.Ala12573= | |
| ENST00000342992.10:c.56634T>C (TTN) | ENSP00000343764.6:p.Ala18878= | |
| ENST00000359218.9:c.37518T>C (TTN) | ENSP00000352154.5:p.Ala12506= | |
| ENST00000460472.6:c.37143T>C (TTN) | ENSP00000434586.1:p.Ala12381= | |
| ENST00000589042.5:c.64338T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala21446= | |
| ENST00000591111.5:c.59415T>C (TTN) | ENSP00000465570.1:p.Ala19805= | |
| ENST00000615779.4:c.59415T>C (TTN) | ENSP00000483597.1:p.Ala19805= | |
| NM_001256850.1:c.59415T>C (TTN) | NP_001243779.1:p.Ala19805= | |
| NM_001267550.2:c.64338T>C (TTN) MANE Select | NP_001254479.2:p.Ala21446= | |
| NM_003319.4:c.37143T>C (TTN) | NP_003310.4:p.Ala12381= | |
| NM_133378.4:c.56634T>C (TTN) | NP_596869.4:p.Ala18878= | |
| NM_133432.3:c.37518T>C (TTN) | NP_597676.3:p.Ala12506= | |
| NM_133437.4:c.37719T>C (TTN) | NP_597681.4:p.Ala12573= | |
| NR_038271.1:n.597-11033A>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1570A>G (TTN-AS1) | ||
| XM_011511729.1:c.63435T>C (TTN) | XP_011510031.1:p.Ala21145= | |
| XM_011511730.1:c.37329T>C (TTN) | XP_011510032.1:p.Ala12443= | |
| XM_011511731.1:c.37188T>C (TTN) | XP_011510033.1:p.Ala12396= | |
| XM_017004819.1:c.63231T>C (TTN) | XP_016860308.1:p.Ala21077= | |
| XM_017004820.1:c.58629T>C (TTN) | XP_016860309.1:p.Ala19543= | |
| XM_017004821.1:c.58626T>C (TTN) | XP_016860310.1:p.Ala19542= | |
| XM_017004822.1:c.55668T>C (TTN) | XP_016860311.1:p.Ala18556= | |
| XM_017004823.1:c.37284T>C (TTN) | XP_016860312.1:p.Ala12428= | |
| XM_024453094.1:c.58779T>C (TTN) | XP_024308862.1:p.Ala19593= | |
| XM_024453095.1:c.58776T>C (TTN) | XP_024308863.1:p.Ala19592= | |
| XM_024453096.1:c.58209T>C (TTN) | XP_024308864.1:p.Ala19403= | |
| XM_024453097.1:c.55551T>C (TTN) | XP_024308865.1:p.Ala18517= | |
| XM_024453098.1:c.55470T>C (TTN) | XP_024308866.1:p.Ala18490= | |
| XM_024453099.1:c.37233T>C (TTN) | XP_024308867.1:p.Ala12411= | |
| XM_024453100.1:c.27087T>C (TTN) | XP_024308868.1:p.Ala9029= |