Linked Data
ClinVar Variation Id:
332744
ClinVar RCV Id:
RCV000259283
RCV000283979
RCV000321288
RCV000354223
RCV000378376
RCV002521344
RCV003226283
dbSNP Id:
rs886055233
gnomAD v3:
2-178559873-T-C
gnomAD v4:
2-178559873-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559873T>C , CM000664.2:g.178559873T>C | GRCh38 |
| NC_000002.11:g.179424600T>C , CM000664.1:g.179424600T>C | GRCh37 |
| NC_000002.10:g.179132846T>C | NCBI36 |
| NG_011618.3:g.275930A>G , LRG_391:g.275930A>G | |
| NG_051363.1:g.42047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78555A>G (TTN) | ENSP00000343764.6:p.Leu26185= | |
| ENST00000342175.11:c.59640A>G (TTN) | ENSP00000340554.6:p.Leu19880= | |
| ENST00000359218.10:c.59439A>G (TTN) | ENSP00000352154.5:p.Leu19813= | |
| ENST00000342175.10:c.59640A>G (TTN) | ENSP00000340554.6:p.Leu19880= | |
| ENST00000342992.10:c.78555A>G (TTN) | ENSP00000343764.6:p.Leu26185= | |
| ENST00000359218.9:c.59439A>G (TTN) | ENSP00000352154.5:p.Leu19813= | |
| ENST00000460472.6:c.59064A>G (TTN) | ENSP00000434586.1:p.Leu19688= | |
| ENST00000589042.5:c.86259A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu28753= | |
| ENST00000591111.5:c.81336A>G (TTN) | ENSP00000465570.1:p.Leu27112= | |
| ENST00000615779.4:c.81336A>G (TTN) | ENSP00000483597.1:p.Leu27112= | |
| NM_001256850.1:c.81336A>G (TTN) | NP_001243779.1:p.Leu27112= | |
| NM_001267550.2:c.86259A>G (TTN) MANE Select | NP_001254479.2:p.Leu28753= | |
| NM_003319.4:c.59064A>G (TTN) | NP_003310.4:p.Leu19688= | |
| NM_133378.4:c.78555A>G (TTN) | NP_596869.4:p.Leu26185= | |
| NM_133432.3:c.59439A>G (TTN) | NP_597676.3:p.Leu19813= | |
| NM_133437.4:c.59640A>G (TTN) | NP_597681.4:p.Leu19880= | |
| NR_038271.1:n.447-11427T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+17512T>C (TTN-AS1) | ||
| XM_011511729.1:c.85356A>G (TTN) | XP_011510031.1:p.Leu28452= | |
| XM_011511730.1:c.59250A>G (TTN) | XP_011510032.1:p.Leu19750= | |
| XM_011511731.1:c.59109A>G (TTN) | XP_011510033.1:p.Leu19703= | |
| XM_017004819.1:c.85152A>G (TTN) | XP_016860308.1:p.Leu28384= | |
| XM_017004820.1:c.80550A>G (TTN) | XP_016860309.1:p.Leu26850= | |
| XM_017004821.1:c.80547A>G (TTN) | XP_016860310.1:p.Leu26849= | |
| XM_017004822.1:c.77589A>G (TTN) | XP_016860311.1:p.Leu25863= | |
| XM_017004823.1:c.59205A>G (TTN) | XP_016860312.1:p.Leu19735= | |
| XM_024453094.1:c.80700A>G (TTN) | XP_024308862.1:p.Leu26900= | |
| XM_024453095.1:c.80697A>G (TTN) | XP_024308863.1:p.Leu26899= | |
| XM_024453096.1:c.80130A>G (TTN) | XP_024308864.1:p.Leu26710= | |
| XM_024453097.1:c.77472A>G (TTN) | XP_024308865.1:p.Leu25824= | |
| XM_024453098.1:c.77391A>G (TTN) | XP_024308866.1:p.Leu25797= | |
| XM_024453099.1:c.59154A>G (TTN) | XP_024308867.1:p.Leu19718= | |
| XM_024453100.1:c.49008A>G (TTN) | XP_024308868.1:p.Leu16336= |