Linked Data
ClinVar Variation Id:
196194
dbSNP Id:
rs370769662
ExAC:
2:179411078 T / C
gnomAD v2:
2-179411078-T-C
gnomAD v3:
2-178546351-T-C
gnomAD v4:
2-178546351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546351T>C , CM000664.2:g.178546351T>C | GRCh38 |
| NC_000002.11:g.179411078T>C , CM000664.1:g.179411078T>C | GRCh37 |
| NC_000002.10:g.179119324T>C | NCBI36 |
| NG_011618.3:g.289452A>G , LRG_391:g.289452A>G | |
| NG_051363.1:g.28525T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87276A>G (TTN) | ENSP00000343764.6:p.Glu29092= | |
| ENST00000342175.11:c.68361A>G (TTN) | ENSP00000340554.6:p.Glu22787= | |
| ENST00000359218.10:c.68160A>G (TTN) | ENSP00000352154.5:p.Glu22720= | |
| ENST00000342175.10:c.68361A>G (TTN) | ENSP00000340554.6:p.Glu22787= | |
| ENST00000342992.10:c.87276A>G (TTN) | ENSP00000343764.6:p.Glu29092= | |
| ENST00000359218.9:c.68160A>G (TTN) | ENSP00000352154.5:p.Glu22720= | |
| ENST00000460472.6:c.67785A>G (TTN) | ENSP00000434586.1:p.Glu22595= | |
| ENST00000589042.5:c.94980A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu31660= | |
| ENST00000591111.5:c.90057A>G (TTN) | ENSP00000465570.1:p.Glu30019= | |
| ENST00000615779.4:c.90057A>G (TTN) | ENSP00000483597.1:p.Glu30019= | |
| NM_001256850.1:c.90057A>G (TTN) | NP_001243779.1:p.Glu30019= | |
| NM_001267550.2:c.94980A>G (TTN) MANE Select | NP_001254479.2:p.Glu31660= | |
| NM_003319.4:c.67785A>G (TTN) | NP_003310.4:p.Glu22595= | |
| NM_133378.4:c.87276A>G (TTN) | NP_596869.4:p.Glu29092= | |
| NM_133432.3:c.68160A>G (TTN) | NP_597676.3:p.Glu22720= | |
| NM_133437.4:c.68361A>G (TTN) | NP_597681.4:p.Glu22787= | |
| NR_038271.1:n.446+22715T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+3990T>C (TTN-AS1) | ||
| XM_011511729.1:c.94077A>G (TTN) | XP_011510031.1:p.Glu31359= | |
| XM_011511730.1:c.67971A>G (TTN) | XP_011510032.1:p.Glu22657= | |
| XM_011511731.1:c.67830A>G (TTN) | XP_011510033.1:p.Glu22610= | |
| XM_017004819.1:c.93873A>G (TTN) | XP_016860308.1:p.Glu31291= | |
| XM_017004820.1:c.89271A>G (TTN) | XP_016860309.1:p.Glu29757= | |
| XM_017004821.1:c.89268A>G (TTN) | XP_016860310.1:p.Glu29756= | |
| XM_017004822.1:c.86310A>G (TTN) | XP_016860311.1:p.Glu28770= | |
| XM_017004823.1:c.67926A>G (TTN) | XP_016860312.1:p.Glu22642= | |
| XM_024453094.1:c.89421A>G (TTN) | XP_024308862.1:p.Glu29807= | |
| XM_024453095.1:c.89418A>G (TTN) | XP_024308863.1:p.Glu29806= | |
| XM_024453096.1:c.88851A>G (TTN) | XP_024308864.1:p.Glu29617= | |
| XM_024453097.1:c.86193A>G (TTN) | XP_024308865.1:p.Glu28731= | |
| XM_024453098.1:c.86112A>G (TTN) | XP_024308866.1:p.Glu28704= | |
| XM_024453099.1:c.67875A>G (TTN) | XP_024308867.1:p.Glu22625= | |
| XM_024453100.1:c.57729A>G (TTN) | XP_024308868.1:p.Glu19243= |