Linked Data
ClinVar Variation Id:
165957
ClinVar RCV Id:
RCV000152288
RCV000472628
RCV000617550
RCV001081047
RCV001133744
RCV001135232
RCV001135231
RCV001135233
RCV001135234
RCV001170374
dbSNP Id:
rs372019333
ExAC:
2:179463374 A / G
gnomAD v2:
2-179463374-A-G
gnomAD v3:
2-178598647-A-G
gnomAD v4:
2-178598647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598647A>G , CM000664.2:g.178598647A>G | GRCh38 |
| NC_000002.11:g.179463374A>G , CM000664.1:g.179463374A>G | GRCh37 |
| NC_000002.10:g.179171619A>G | NCBI36 |
| NG_011618.3:g.237156T>C , LRG_391:g.237156T>C | |
| NG_051363.1:g.80821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49266T>C (TTN) | ENSP00000343764.6:p.Pro16422= | |
| ENST00000342175.11:c.30351T>C (TTN) | ENSP00000340554.6:p.Pro10117= | |
| ENST00000359218.10:c.30150T>C (TTN) | ENSP00000352154.5:p.Pro10050= | |
| ENST00000342175.10:c.30351T>C (TTN) | ENSP00000340554.6:p.Pro10117= | |
| ENST00000342992.10:c.49266T>C (TTN) | ENSP00000343764.6:p.Pro16422= | |
| ENST00000359218.9:c.30150T>C (TTN) | ENSP00000352154.5:p.Pro10050= | |
| ENST00000460472.6:c.29775T>C (TTN) | ENSP00000434586.1:p.Pro9925= | |
| ENST00000589042.5:c.56970T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro18990= | |
| ENST00000591111.5:c.52047T>C (TTN) | ENSP00000465570.1:p.Pro17349= | |
| ENST00000615779.4:c.52047T>C (TTN) | ENSP00000483597.1:p.Pro17349= | |
| NM_001256850.1:c.52047T>C (TTN) | NP_001243779.1:p.Pro17349= | |
| NM_001267550.2:c.56970T>C (TTN) MANE Select | NP_001254479.2:p.Pro18990= | |
| NM_003319.4:c.29775T>C (TTN) | NP_003310.4:p.Pro9925= | |
| NM_133378.4:c.49266T>C (TTN) | NP_596869.4:p.Pro16422= | |
| NM_133432.3:c.30150T>C (TTN) | NP_597676.3:p.Pro10050= | |
| NM_133437.4:c.30351T>C (TTN) | NP_597681.4:p.Pro10117= | |
| NR_038271.1:n.682+966A>G (TTN-AS1) | ||
| NR_038272.1:n.3542A>G (TTN-AS1) | ||
| XM_011511729.1:c.56067T>C (TTN) | XP_011510031.1:p.Pro18689= | |
| XM_011511730.1:c.29961T>C (TTN) | XP_011510032.1:p.Pro9987= | |
| XM_011511731.1:c.29820T>C (TTN) | XP_011510033.1:p.Pro9940= | |
| XM_017004819.1:c.55863T>C (TTN) | XP_016860308.1:p.Pro18621= | |
| XM_017004820.1:c.51261T>C (TTN) | XP_016860309.1:p.Pro17087= | |
| XM_017004821.1:c.51258T>C (TTN) | XP_016860310.1:p.Pro17086= | |
| XM_017004822.1:c.48300T>C (TTN) | XP_016860311.1:p.Pro16100= | |
| XM_017004823.1:c.29916T>C (TTN) | XP_016860312.1:p.Pro9972= | |
| XM_024453094.1:c.51411T>C (TTN) | XP_024308862.1:p.Pro17137= | |
| XM_024453095.1:c.51408T>C (TTN) | XP_024308863.1:p.Pro17136= | |
| XM_024453096.1:c.50841T>C (TTN) | XP_024308864.1:p.Pro16947= | |
| XM_024453097.1:c.48183T>C (TTN) | XP_024308865.1:p.Pro16061= | |
| XM_024453098.1:c.48102T>C (TTN) | XP_024308866.1:p.Pro16034= | |
| XM_024453099.1:c.29865T>C (TTN) | XP_024308867.1:p.Pro9955= | |
| XM_024453100.1:c.19719T>C (TTN) | XP_024308868.1:p.Pro6573= |