Linked Data
ClinVar Variation Id:
196066
dbSNP Id:
rs200771189
ExAC:
2:179429387 G / C
gnomAD v2:
2-179429387-G-C
gnomAD v3:
2-178564660-G-C
gnomAD v4:
2-178564660-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564660G>C , CM000664.2:g.178564660G>C | GRCh38 |
| NC_000002.11:g.179429387G>C , CM000664.1:g.179429387G>C | GRCh37 |
| NC_000002.10:g.179137633G>C | NCBI36 |
| NG_011618.3:g.271143C>G , LRG_391:g.271143C>G | |
| NG_051363.1:g.46834G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73768C>G (TTN) | ENSP00000343764.6:p.Pro24590Ala | |
| ENST00000342175.11:c.54853C>G (TTN) | ENSP00000340554.6:p.Pro18285Ala | |
| ENST00000359218.10:c.54652C>G (TTN) | ENSP00000352154.5:p.Pro18218Ala | |
| ENST00000342175.10:c.54853C>G (TTN) | ENSP00000340554.6:p.Pro18285Ala | |
| ENST00000342992.10:c.73768C>G (TTN) | ENSP00000343764.6:p.Pro24590Ala | |
| ENST00000359218.9:c.54652C>G (TTN) | ENSP00000352154.5:p.Pro18218Ala | |
| ENST00000460472.6:c.54277C>G (TTN) | ENSP00000434586.1:p.Pro18093Ala | |
| ENST00000589042.5:c.81472C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro27158Ala | |
| ENST00000591111.5:c.76549C>G (TTN) | ENSP00000465570.1:p.Pro25517Ala | |
| ENST00000615779.4:c.76549C>G (TTN) | ENSP00000483597.1:p.Pro25517Ala | |
| NM_001256850.1:c.76549C>G (TTN) | NP_001243779.1:p.Pro25517Ala | |
| NM_001267550.2:c.81472C>G (TTN) MANE Select | NP_001254479.2:p.Pro27158Ala | |
| NM_003319.4:c.54277C>G (TTN) | NP_003310.4:p.Pro18093Ala | |
| NM_133378.4:c.73768C>G (TTN) | NP_596869.4:p.Pro24590Ala | |
| NM_133432.3:c.54652C>G (TTN) | NP_597676.3:p.Pro18218Ala | |
| NM_133437.4:c.54853C>G (TTN) | NP_597681.4:p.Pro18285Ala | |
| NR_038271.1:n.447-6640G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-17912G>C (TTN-AS1) | ||
| XM_011511729.1:c.80569C>G (TTN) | XP_011510031.1:p.Pro26857Ala | |
| XM_011511730.1:c.54463C>G (TTN) | XP_011510032.1:p.Pro18155Ala | |
| XM_011511731.1:c.54322C>G (TTN) | XP_011510033.1:p.Pro18108Ala | |
| XM_017004819.1:c.80365C>G (TTN) | XP_016860308.1:p.Pro26789Ala | |
| XM_017004820.1:c.75763C>G (TTN) | XP_016860309.1:p.Pro25255Ala | |
| XM_017004821.1:c.75760C>G (TTN) | XP_016860310.1:p.Pro25254Ala | |
| XM_017004822.1:c.72802C>G (TTN) | XP_016860311.1:p.Pro24268Ala | |
| XM_017004823.1:c.54418C>G (TTN) | XP_016860312.1:p.Pro18140Ala | |
| XM_024453094.1:c.75913C>G (TTN) | XP_024308862.1:p.Pro25305Ala | |
| XM_024453095.1:c.75910C>G (TTN) | XP_024308863.1:p.Pro25304Ala | |
| XM_024453096.1:c.75343C>G (TTN) | XP_024308864.1:p.Pro25115Ala | |
| XM_024453097.1:c.72685C>G (TTN) | XP_024308865.1:p.Pro24229Ala | |
| XM_024453098.1:c.72604C>G (TTN) | XP_024308866.1:p.Pro24202Ala | |
| XM_024453099.1:c.54367C>G (TTN) | XP_024308867.1:p.Pro18123Ala | |
| XM_024453100.1:c.44221C>G (TTN) | XP_024308868.1:p.Pro14741Ala |