Linked Data
ClinVar Variation Id:
165971
ClinVar RCV Id:
RCV000152303
RCV000231621
RCV000243957
RCV001093062
RCV001131388
RCV001170601
RCV001131389
RCV001131390
RCV001131391
RCV001131392
RCV004528878
dbSNP Id:
rs190830121
ExAC:
2:179467226 G / C
gnomAD v2:
2-179467226-G-C
gnomAD v3:
2-178602499-G-C
gnomAD v4:
2-178602499-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602499G>C , CM000664.2:g.178602499G>C | GRCh38 |
| NC_000002.11:g.179467226G>C , CM000664.1:g.179467226G>C | GRCh37 |
| NC_000002.10:g.179175471G>C | NCBI36 |
| NG_011618.3:g.233304C>G , LRG_391:g.233304C>G | |
| NG_051363.1:g.84673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47199C>G (TTN) | ENSP00000343764.6:p.Gly15733= | |
| ENST00000342175.11:c.28284C>G (TTN) | ENSP00000340554.6:p.Gly9428= | |
| ENST00000359218.10:c.28083C>G (TTN) | ENSP00000352154.5:p.Gly9361= | |
| ENST00000342175.10:c.28284C>G (TTN) | ENSP00000340554.6:p.Gly9428= | |
| ENST00000342992.10:c.47199C>G (TTN) | ENSP00000343764.6:p.Gly15733= | |
| ENST00000359218.9:c.28083C>G (TTN) | ENSP00000352154.5:p.Gly9361= | |
| ENST00000460472.6:c.27708C>G (TTN) | ENSP00000434586.1:p.Gly9236= | |
| ENST00000589042.5:c.54903C>G (TTN) MANE Select | ENSP00000467141.1:p.Gly18301= | |
| ENST00000591111.5:c.49980C>G (TTN) | ENSP00000465570.1:p.Gly16660= | |
| ENST00000615779.4:c.49980C>G (TTN) | ENSP00000483597.1:p.Gly16660= | |
| NM_001256850.1:c.49980C>G (TTN) | NP_001243779.1:p.Gly16660= | |
| NM_001267550.2:c.54903C>G (TTN) MANE Select | NP_001254479.2:p.Gly18301= | |
| NM_003319.4:c.27708C>G (TTN) | NP_003310.4:p.Gly9236= | |
| NM_133378.4:c.47199C>G (TTN) | NP_596869.4:p.Gly15733= | |
| NM_133432.3:c.28083C>G (TTN) | NP_597676.3:p.Gly9361= | |
| NM_133437.4:c.28284C>G (TTN) | NP_597681.4:p.Gly9428= | |
| NR_038271.1:n.682+4818G>C (TTN-AS1) | ||
| NR_038272.1:n.3917+1832G>C (TTN-AS1) | ||
| XM_011511729.1:c.54000C>G (TTN) | XP_011510031.1:p.Gly18000= | |
| XM_011511730.1:c.27894C>G (TTN) | XP_011510032.1:p.Gly9298= | |
| XM_011511731.1:c.27753C>G (TTN) | XP_011510033.1:p.Gly9251= | |
| XM_017004819.1:c.53796C>G (TTN) | XP_016860308.1:p.Gly17932= | |
| XM_017004820.1:c.49194C>G (TTN) | XP_016860309.1:p.Gly16398= | |
| XM_017004821.1:c.49191C>G (TTN) | XP_016860310.1:p.Gly16397= | |
| XM_017004822.1:c.46233C>G (TTN) | XP_016860311.1:p.Gly15411= | |
| XM_017004823.1:c.27849C>G (TTN) | XP_016860312.1:p.Gly9283= | |
| XM_024453094.1:c.49344C>G (TTN) | XP_024308862.1:p.Gly16448= | |
| XM_024453095.1:c.49341C>G (TTN) | XP_024308863.1:p.Gly16447= | |
| XM_024453096.1:c.48774C>G (TTN) | XP_024308864.1:p.Gly16258= | |
| XM_024453097.1:c.46116C>G (TTN) | XP_024308865.1:p.Gly15372= | |
| XM_024453098.1:c.46035C>G (TTN) | XP_024308866.1:p.Gly15345= | |
| XM_024453099.1:c.27798C>G (TTN) | XP_024308867.1:p.Gly9266= | |
| XM_024453100.1:c.17652C>G (TTN) | XP_024308868.1:p.Gly5884= |