Linked Data
dbSNP Id:
rs768307125
ExAC:
2:179457798 G / C
gnomAD v2:
2-179457798-G-C
gnomAD v3:
2-178593071-G-C
gnomAD v4:
2-178593071-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593071G>C , CM000664.2:g.178593071G>C | GRCh38 |
| NC_000002.11:g.179457798G>C , CM000664.1:g.179457798G>C | GRCh37 |
| NC_000002.10:g.179166044G>C | NCBI36 |
| NG_011618.3:g.242732C>G , LRG_391:g.242732C>G | |
| NG_051363.1:g.75245G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51344C>G (TTN) | ENSP00000343764.6:p.Pro17115Arg | |
| ENST00000342175.11:c.32429C>G (TTN) | ENSP00000340554.6:p.Pro10810Arg | |
| ENST00000359218.10:c.32228C>G (TTN) | ENSP00000352154.5:p.Pro10743Arg | |
| ENST00000342175.10:c.32429C>G (TTN) | ENSP00000340554.6:p.Pro10810Arg | |
| ENST00000342992.10:c.51344C>G (TTN) | ENSP00000343764.6:p.Pro17115Arg | |
| ENST00000359218.9:c.32228C>G (TTN) | ENSP00000352154.5:p.Pro10743Arg | |
| ENST00000460472.6:c.31853C>G (TTN) | ENSP00000434586.1:p.Pro10618Arg | |
| ENST00000589042.5:c.59048C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro19683Arg | |
| ENST00000591111.5:c.54125C>G (TTN) | ENSP00000465570.1:p.Pro18042Arg | |
| ENST00000615779.4:c.54125C>G (TTN) | ENSP00000483597.1:p.Pro18042Arg | |
| NM_001256850.1:c.54125C>G (TTN) | NP_001243779.1:p.Pro18042Arg | |
| NM_001267550.2:c.59048C>G (TTN) MANE Select | NP_001254479.2:p.Pro19683Arg | |
| NM_003319.4:c.31853C>G (TTN) | NP_003310.4:p.Pro10618Arg | |
| NM_133378.4:c.51344C>G (TTN) | NP_596869.4:p.Pro17115Arg | |
| NM_133432.3:c.32228C>G (TTN) | NP_597676.3:p.Pro10743Arg | |
| NM_133437.4:c.32429C>G (TTN) | NP_597681.4:p.Pro10810Arg | |
| NR_038271.1:n.597-4525G>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1757G>C (TTN-AS1) | ||
| XM_011511729.1:c.58145C>G (TTN) | XP_011510031.1:p.Pro19382Arg | |
| XM_011511730.1:c.32039C>G (TTN) | XP_011510032.1:p.Pro10680Arg | |
| XM_011511731.1:c.31898C>G (TTN) | XP_011510033.1:p.Pro10633Arg | |
| XM_017004819.1:c.57941C>G (TTN) | XP_016860308.1:p.Pro19314Arg | |
| XM_017004820.1:c.53339C>G (TTN) | XP_016860309.1:p.Pro17780Arg | |
| XM_017004821.1:c.53336C>G (TTN) | XP_016860310.1:p.Pro17779Arg | |
| XM_017004822.1:c.50378C>G (TTN) | XP_016860311.1:p.Pro16793Arg | |
| XM_017004823.1:c.31994C>G (TTN) | XP_016860312.1:p.Pro10665Arg | |
| XM_024453094.1:c.53489C>G (TTN) | XP_024308862.1:p.Pro17830Arg | |
| XM_024453095.1:c.53486C>G (TTN) | XP_024308863.1:p.Pro17829Arg | |
| XM_024453096.1:c.52919C>G (TTN) | XP_024308864.1:p.Pro17640Arg | |
| XM_024453097.1:c.50261C>G (TTN) | XP_024308865.1:p.Pro16754Arg | |
| XM_024453098.1:c.50180C>G (TTN) | XP_024308866.1:p.Pro16727Arg | |
| XM_024453099.1:c.31943C>G (TTN) | XP_024308867.1:p.Pro10648Arg | |
| XM_024453100.1:c.21797C>G (TTN) | XP_024308868.1:p.Pro7266Arg |