Linked Data
ClinVar Variation Id:
47401
dbSNP Id:
rs368443217
ExAC:
2:179429188 T / C
gnomAD v2:
2-179429188-T-C
gnomAD v3:
2-178564461-T-C
gnomAD v4:
2-178564461-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564461T>C , CM000664.2:g.178564461T>C | GRCh38 |
| NC_000002.11:g.179429188T>C , CM000664.1:g.179429188T>C | GRCh37 |
| NC_000002.10:g.179137434T>C | NCBI36 |
| NG_011618.3:g.271342A>G , LRG_391:g.271342A>G | |
| NG_051363.1:g.46635T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73967A>G (TTN) | ENSP00000343764.6:p.Asn24656Ser | |
| ENST00000342175.11:c.55052A>G (TTN) | ENSP00000340554.6:p.Asn18351Ser | |
| ENST00000359218.10:c.54851A>G (TTN) | ENSP00000352154.5:p.Asn18284Ser | |
| ENST00000342175.10:c.55052A>G (TTN) | ENSP00000340554.6:p.Asn18351Ser | |
| ENST00000342992.10:c.73967A>G (TTN) | ENSP00000343764.6:p.Asn24656Ser | |
| ENST00000359218.9:c.54851A>G (TTN) | ENSP00000352154.5:p.Asn18284Ser | |
| ENST00000460472.6:c.54476A>G (TTN) | ENSP00000434586.1:p.Asn18159Ser | |
| ENST00000589042.5:c.81671A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn27224Ser | |
| ENST00000591111.5:c.76748A>G (TTN) | ENSP00000465570.1:p.Asn25583Ser | |
| ENST00000615779.4:c.76748A>G (TTN) | ENSP00000483597.1:p.Asn25583Ser | |
| NM_001256850.1:c.76748A>G (TTN) | NP_001243779.1:p.Asn25583Ser | |
| NM_001267550.2:c.81671A>G (TTN) MANE Select | NP_001254479.2:p.Asn27224Ser | |
| NM_003319.4:c.54476A>G (TTN) | NP_003310.4:p.Asn18159Ser | |
| NM_133378.4:c.73967A>G (TTN) | NP_596869.4:p.Asn24656Ser | |
| NM_133432.3:c.54851A>G (TTN) | NP_597676.3:p.Asn18284Ser | |
| NM_133437.4:c.55052A>G (TTN) | NP_597681.4:p.Asn18351Ser | |
| NR_038271.1:n.447-6839T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-18111T>C (TTN-AS1) | ||
| XM_011511729.1:c.80768A>G (TTN) | XP_011510031.1:p.Asn26923Ser | |
| XM_011511730.1:c.54662A>G (TTN) | XP_011510032.1:p.Asn18221Ser | |
| XM_011511731.1:c.54521A>G (TTN) | XP_011510033.1:p.Asn18174Ser | |
| XM_017004819.1:c.80564A>G (TTN) | XP_016860308.1:p.Asn26855Ser | |
| XM_017004820.1:c.75962A>G (TTN) | XP_016860309.1:p.Asn25321Ser | |
| XM_017004821.1:c.75959A>G (TTN) | XP_016860310.1:p.Asn25320Ser | |
| XM_017004822.1:c.73001A>G (TTN) | XP_016860311.1:p.Asn24334Ser | |
| XM_017004823.1:c.54617A>G (TTN) | XP_016860312.1:p.Asn18206Ser | |
| XM_024453094.1:c.76112A>G (TTN) | XP_024308862.1:p.Asn25371Ser | |
| XM_024453095.1:c.76109A>G (TTN) | XP_024308863.1:p.Asn25370Ser | |
| XM_024453096.1:c.75542A>G (TTN) | XP_024308864.1:p.Asn25181Ser | |
| XM_024453097.1:c.72884A>G (TTN) | XP_024308865.1:p.Asn24295Ser | |
| XM_024453098.1:c.72803A>G (TTN) | XP_024308866.1:p.Asn24268Ser | |
| XM_024453099.1:c.54566A>G (TTN) | XP_024308867.1:p.Asn18189Ser | |
| XM_024453100.1:c.44420A>G (TTN) | XP_024308868.1:p.Asn14807Ser |