Linked Data
ClinVar Variation Id:
178818
dbSNP Id:
rs727504465
ExAC:
2:179392196 T / C
gnomAD v2:
2-179392196-T-C
gnomAD v4:
2-178527469-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527469T>C , CM000664.2:g.178527469T>C | GRCh38 |
| NC_000002.11:g.179392196T>C , CM000664.1:g.179392196T>C | GRCh37 |
| NC_000002.10:g.179100442T>C | NCBI36 |
| NG_011618.3:g.308334A>G , LRG_391:g.308334A>G | |
| NG_051363.1:g.9643T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99953A>G (TTN) | ENSP00000343764.6:p.Lys33318Arg | |
| ENST00000342175.11:c.81038A>G (TTN) | ENSP00000340554.6:p.Lys27013Arg | |
| ENST00000359218.10:c.80837A>G (TTN) | ENSP00000352154.5:p.Lys26946Arg | |
| ENST00000342175.10:c.81038A>G (TTN) | ENSP00000340554.6:p.Lys27013Arg | |
| ENST00000342992.10:c.99953A>G (TTN) | ENSP00000343764.6:p.Lys33318Arg | |
| ENST00000359218.9:c.80837A>G (TTN) | ENSP00000352154.5:p.Lys26946Arg | |
| ENST00000460472.6:c.80462A>G (TTN) | ENSP00000434586.1:p.Lys26821Arg | |
| ENST00000589042.5:c.107657A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys35886Arg | |
| ENST00000591111.5:c.102734A>G (TTN) | ENSP00000465570.1:p.Lys34245Arg | |
| ENST00000615779.4:c.102734A>G (TTN) | ENSP00000483597.1:p.Lys34245Arg | |
| NM_001256850.1:c.102734A>G (TTN) | NP_001243779.1:p.Lys34245Arg | |
| NM_001267550.2:c.107657A>G (TTN) MANE Select | NP_001254479.2:p.Lys35886Arg | |
| NM_003319.4:c.80462A>G (TTN) | NP_003310.4:p.Lys26821Arg | |
| NM_133378.4:c.99953A>G (TTN) | NP_596869.4:p.Lys33318Arg | |
| NM_133432.3:c.80837A>G (TTN) | NP_597676.3:p.Lys26946Arg | |
| NM_133437.4:c.81038A>G (TTN) | NP_597681.4:p.Lys27013Arg | |
| NR_038271.1:n.446+3833T>C (TTN-AS1) | ||
| NR_038272.1:n.219+3833T>C (TTN-AS1) | ||
| XM_011511729.1:c.106754A>G (TTN) | XP_011510031.1:p.Lys35585Arg | |
| XM_011511730.1:c.80648A>G (TTN) | XP_011510032.1:p.Lys26883Arg | |
| XM_011511731.1:c.80507A>G (TTN) | XP_011510033.1:p.Lys26836Arg | |
| XM_017004819.1:c.106550A>G (TTN) | XP_016860308.1:p.Lys35517Arg | |
| XM_017004820.1:c.101948A>G (TTN) | XP_016860309.1:p.Lys33983Arg | |
| XM_017004821.1:c.101945A>G (TTN) | XP_016860310.1:p.Lys33982Arg | |
| XM_017004822.1:c.98987A>G (TTN) | XP_016860311.1:p.Lys32996Arg | |
| XM_017004823.1:c.80603A>G (TTN) | XP_016860312.1:p.Lys26868Arg | |
| XM_024453094.1:c.102098A>G (TTN) | XP_024308862.1:p.Lys34033Arg | |
| XM_024453095.1:c.102095A>G (TTN) | XP_024308863.1:p.Lys34032Arg | |
| XM_024453096.1:c.101528A>G (TTN) | XP_024308864.1:p.Lys33843Arg | |
| XM_024453097.1:c.98870A>G (TTN) | XP_024308865.1:p.Lys32957Arg | |
| XM_024453098.1:c.98789A>G (TTN) | XP_024308866.1:p.Lys32930Arg | |
| XM_024453099.1:c.80552A>G (TTN) | XP_024308867.1:p.Lys26851Arg | |
| XM_024453100.1:c.70406A>G (TTN) | XP_024308868.1:p.Lys23469Arg |