Linked Data
ClinVar Variation Id:
467255
dbSNP Id:
rs373277508
ExAC:
2:179470397 T / C
gnomAD v2:
2-179470397-T-C
gnomAD v3:
2-178605670-T-C
gnomAD v4:
2-178605670-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605670T>C , CM000664.2:g.178605670T>C | GRCh38 |
| NC_000002.11:g.179470397T>C , CM000664.1:g.179470397T>C | GRCh37 |
| NC_000002.10:g.179178642T>C | NCBI36 |
| NG_011618.3:g.230133A>G , LRG_391:g.230133A>G | |
| NG_051363.1:g.87844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45921A>G (TTN) | ENSP00000343764.6:p.Thr15307= | |
| ENST00000342175.11:c.27006A>G (TTN) | ENSP00000340554.6:p.Thr9002= | |
| ENST00000359218.10:c.26805A>G (TTN) | ENSP00000352154.5:p.Thr8935= | |
| ENST00000342175.10:c.27006A>G (TTN) | ENSP00000340554.6:p.Thr9002= | |
| ENST00000342992.10:c.45921A>G (TTN) | ENSP00000343764.6:p.Thr15307= | |
| ENST00000359218.9:c.26805A>G (TTN) | ENSP00000352154.5:p.Thr8935= | |
| ENST00000460472.6:c.26430A>G (TTN) | ENSP00000434586.1:p.Thr8810= | |
| ENST00000589042.5:c.53625A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr17875= | |
| ENST00000591111.5:c.48702A>G (TTN) | ENSP00000465570.1:p.Thr16234= | |
| ENST00000615779.4:c.48702A>G (TTN) | ENSP00000483597.1:p.Thr16234= | |
| NM_001256850.1:c.48702A>G (TTN) | NP_001243779.1:p.Thr16234= | |
| NM_001267550.2:c.53625A>G (TTN) MANE Select | NP_001254479.2:p.Thr17875= | |
| NM_003319.4:c.26430A>G (TTN) | NP_003310.4:p.Thr8810= | |
| NM_133378.4:c.45921A>G (TTN) | NP_596869.4:p.Thr15307= | |
| NM_133432.3:c.26805A>G (TTN) | NP_597676.3:p.Thr8935= | |
| NM_133437.4:c.27006A>G (TTN) | NP_597681.4:p.Thr9002= | |
| NR_038271.1:n.683-2497T>C (TTN-AS1) | ||
| XM_011511729.1:c.52722A>G (TTN) | XP_011510031.1:p.Thr17574= | |
| XM_011511730.1:c.26616A>G (TTN) | XP_011510032.1:p.Thr8872= | |
| XM_011511731.1:c.26475A>G (TTN) | XP_011510033.1:p.Thr8825= | |
| XM_017004819.1:c.52518A>G (TTN) | XP_016860308.1:p.Thr17506= | |
| XM_017004820.1:c.47916A>G (TTN) | XP_016860309.1:p.Thr15972= | |
| XM_017004821.1:c.47913A>G (TTN) | XP_016860310.1:p.Thr15971= | |
| XM_017004822.1:c.44955A>G (TTN) | XP_016860311.1:p.Thr14985= | |
| XM_017004823.1:c.26571A>G (TTN) | XP_016860312.1:p.Thr8857= | |
| XM_024453094.1:c.48066A>G (TTN) | XP_024308862.1:p.Thr16022= | |
| XM_024453095.1:c.48063A>G (TTN) | XP_024308863.1:p.Thr16021= | |
| XM_024453096.1:c.47496A>G (TTN) | XP_024308864.1:p.Thr15832= | |
| XM_024453097.1:c.44838A>G (TTN) | XP_024308865.1:p.Thr14946= | |
| XM_024453098.1:c.44757A>G (TTN) | XP_024308866.1:p.Thr14919= | |
| XM_024453099.1:c.26520A>G (TTN) | XP_024308867.1:p.Thr8840= | |
| XM_024453100.1:c.16374A>G (TTN) | XP_024308868.1:p.Thr5458= |