Linked Data
ClinVar Variation Id:
1757065
ClinVar RCV Id:
RCV002365156
dbSNP Id:
rs748057839
ExAC:
2:179404802 T / G
gnomAD v2:
2-179404802-T-G
gnomAD v3:
2-178540075-T-G
gnomAD v4:
2-178540075-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178540075T>G , CM000664.2:g.178540075T>G | GRCh38 |
| NC_000002.11:g.179404802T>G , CM000664.1:g.179404802T>G | GRCh37 |
| NC_000002.10:g.179113048T>G | NCBI36 |
| NG_011618.3:g.295728A>C , LRG_391:g.295728A>C | |
| NG_051363.1:g.22249T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90387A>C (TTN) | ENSP00000343764.6:p.Glu30129Asp | |
| ENST00000342175.11:c.71472A>C (TTN) | ENSP00000340554.6:p.Glu23824Asp | |
| ENST00000359218.10:c.71271A>C (TTN) | ENSP00000352154.5:p.Glu23757Asp | |
| ENST00000342175.10:c.71472A>C (TTN) | ENSP00000340554.6:p.Glu23824Asp | |
| ENST00000342992.10:c.90387A>C (TTN) | ENSP00000343764.6:p.Glu30129Asp | |
| ENST00000359218.9:c.71271A>C (TTN) | ENSP00000352154.5:p.Glu23757Asp | |
| ENST00000460472.6:c.70896A>C (TTN) | ENSP00000434586.1:p.Glu23632Asp | |
| ENST00000589042.5:c.98091A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu32697Asp | |
| ENST00000591111.5:c.93168A>C (TTN) | ENSP00000465570.1:p.Glu31056Asp | |
| ENST00000615779.4:c.93168A>C (TTN) | ENSP00000483597.1:p.Glu31056Asp | |
| NM_001256850.1:c.93168A>C (TTN) | NP_001243779.1:p.Glu31056Asp | |
| NM_001267550.2:c.98091A>C (TTN) MANE Select | NP_001254479.2:p.Glu32697Asp | |
| NM_003319.4:c.70896A>C (TTN) | NP_003310.4:p.Glu23632Asp | |
| NM_133378.4:c.90387A>C (TTN) | NP_596869.4:p.Glu30129Asp | |
| NM_133432.3:c.71271A>C (TTN) | NP_597676.3:p.Glu23757Asp | |
| NM_133437.4:c.71472A>C (TTN) | NP_597681.4:p.Glu23824Asp | |
| NR_038271.1:n.446+16439T>G (TTN-AS1) | ||
| NR_038272.1:n.1841-32T>G (TTN-AS1) | ||
| XM_011511729.1:c.97188A>C (TTN) | XP_011510031.1:p.Glu32396Asp | |
| XM_011511730.1:c.71082A>C (TTN) | XP_011510032.1:p.Glu23694Asp | |
| XM_011511731.1:c.70941A>C (TTN) | XP_011510033.1:p.Glu23647Asp | |
| XM_017004819.1:c.96984A>C (TTN) | XP_016860308.1:p.Glu32328Asp | |
| XM_017004820.1:c.92382A>C (TTN) | XP_016860309.1:p.Glu30794Asp | |
| XM_017004821.1:c.92379A>C (TTN) | XP_016860310.1:p.Glu30793Asp | |
| XM_017004822.1:c.89421A>C (TTN) | XP_016860311.1:p.Glu29807Asp | |
| XM_017004823.1:c.71037A>C (TTN) | XP_016860312.1:p.Glu23679Asp | |
| XM_024453094.1:c.92532A>C (TTN) | XP_024308862.1:p.Glu30844Asp | |
| XM_024453095.1:c.92529A>C (TTN) | XP_024308863.1:p.Glu30843Asp | |
| XM_024453096.1:c.91962A>C (TTN) | XP_024308864.1:p.Glu30654Asp | |
| XM_024453097.1:c.89304A>C (TTN) | XP_024308865.1:p.Glu29768Asp | |
| XM_024453098.1:c.89223A>C (TTN) | XP_024308866.1:p.Glu29741Asp | |
| XM_024453099.1:c.70986A>C (TTN) | XP_024308867.1:p.Glu23662Asp | |
| XM_024453100.1:c.60840A>C (TTN) | XP_024308868.1:p.Glu20280Asp |