Linked Data
ClinVar Variation Id:
178152
ClinVar RCV Id:
RCV000154868
RCV001136023
RCV001136025
RCV001136024
RCV001136021
RCV001136022
RCV002415661
RCV004534966
dbSNP Id:
rs373152640
ExAC:
2:179393602 A / C
gnomAD v2:
2-179393602-A-C
gnomAD v3:
2-178528875-A-C
gnomAD v4:
2-178528875-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528875A>C , CM000664.2:g.178528875A>C | GRCh38 |
| NC_000002.11:g.179393602A>C , CM000664.1:g.179393602A>C | GRCh37 |
| NC_000002.10:g.179101848A>C | NCBI36 |
| NG_011618.3:g.306928T>G , LRG_391:g.306928T>G | |
| NG_051363.1:g.11049A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99172T>G (TTN) | ENSP00000343764.6:p.Leu33058Val | |
| ENST00000342175.11:c.80257T>G (TTN) | ENSP00000340554.6:p.Leu26753Val | |
| ENST00000359218.10:c.80056T>G (TTN) | ENSP00000352154.5:p.Leu26686Val | |
| ENST00000342175.10:c.80257T>G (TTN) | ENSP00000340554.6:p.Leu26753Val | |
| ENST00000342992.10:c.99172T>G (TTN) | ENSP00000343764.6:p.Leu33058Val | |
| ENST00000359218.9:c.80056T>G (TTN) | ENSP00000352154.5:p.Leu26686Val | |
| ENST00000460472.6:c.79681T>G (TTN) | ENSP00000434586.1:p.Leu26561Val | |
| ENST00000589042.5:c.106876T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu35626Val | |
| ENST00000591111.5:c.101953T>G (TTN) | ENSP00000465570.1:p.Leu33985Val | |
| ENST00000615779.4:c.101953T>G (TTN) | ENSP00000483597.1:p.Leu33985Val | |
| NM_001256850.1:c.101953T>G (TTN) | NP_001243779.1:p.Leu33985Val | |
| NM_001267550.2:c.106876T>G (TTN) MANE Select | NP_001254479.2:p.Leu35626Val | |
| NM_003319.4:c.79681T>G (TTN) | NP_003310.4:p.Leu26561Val | |
| NM_133378.4:c.99172T>G (TTN) | NP_596869.4:p.Leu33058Val | |
| NM_133432.3:c.80056T>G (TTN) | NP_597676.3:p.Leu26686Val | |
| NM_133437.4:c.80257T>G (TTN) | NP_597681.4:p.Leu26753Val | |
| NR_038271.1:n.446+5239A>C (TTN-AS1) | ||
| NR_038272.1:n.219+5239A>C (TTN-AS1) | ||
| XM_011511729.1:c.105973T>G (TTN) | XP_011510031.1:p.Leu35325Val | |
| XM_011511730.1:c.79867T>G (TTN) | XP_011510032.1:p.Leu26623Val | |
| XM_011511731.1:c.79726T>G (TTN) | XP_011510033.1:p.Leu26576Val | |
| XM_017004819.1:c.105769T>G (TTN) | XP_016860308.1:p.Leu35257Val | |
| XM_017004820.1:c.101167T>G (TTN) | XP_016860309.1:p.Leu33723Val | |
| XM_017004821.1:c.101164T>G (TTN) | XP_016860310.1:p.Leu33722Val | |
| XM_017004822.1:c.98206T>G (TTN) | XP_016860311.1:p.Leu32736Val | |
| XM_017004823.1:c.79822T>G (TTN) | XP_016860312.1:p.Leu26608Val | |
| XM_024453094.1:c.101317T>G (TTN) | XP_024308862.1:p.Leu33773Val | |
| XM_024453095.1:c.101314T>G (TTN) | XP_024308863.1:p.Leu33772Val | |
| XM_024453096.1:c.100747T>G (TTN) | XP_024308864.1:p.Leu33583Val | |
| XM_024453097.1:c.98089T>G (TTN) | XP_024308865.1:p.Leu32697Val | |
| XM_024453098.1:c.98008T>G (TTN) | XP_024308866.1:p.Leu32670Val | |
| XM_024453099.1:c.79771T>G (TTN) | XP_024308867.1:p.Leu26591Val | |
| XM_024453100.1:c.69625T>G (TTN) | XP_024308868.1:p.Leu23209Val |