Linked Data
ClinVar Variation Id:
332694
ClinVar RCV Id:
RCV000274660
RCV000289473
RCV000327506
RCV000380443
RCV000384361
RCV001565339
RCV002402055
dbSNP Id:
rs370890922
ExAC:
2:179397349 G / C
gnomAD v2:
2-179397349-G-C
gnomAD v3:
2-178532622-G-C
gnomAD v4:
2-178532622-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532622G>C , CM000664.2:g.178532622G>C | GRCh38 |
| NC_000002.11:g.179397349G>C , CM000664.1:g.179397349G>C | GRCh37 |
| NC_000002.10:g.179105595G>C | NCBI36 |
| NG_011618.3:g.303181C>G , LRG_391:g.303181C>G | |
| NG_051363.1:g.14796G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96289C>G (TTN) | ENSP00000343764.6:p.Leu32097Val | |
| ENST00000342175.11:c.77374C>G (TTN) | ENSP00000340554.6:p.Leu25792Val | |
| ENST00000359218.10:c.77173C>G (TTN) | ENSP00000352154.5:p.Leu25725Val | |
| ENST00000342175.10:c.77374C>G (TTN) | ENSP00000340554.6:p.Leu25792Val | |
| ENST00000342992.10:c.96289C>G (TTN) | ENSP00000343764.6:p.Leu32097Val | |
| ENST00000359218.9:c.77173C>G (TTN) | ENSP00000352154.5:p.Leu25725Val | |
| ENST00000460472.6:c.76798C>G (TTN) | ENSP00000434586.1:p.Leu25600Val | |
| ENST00000589042.5:c.103993C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu34665Val | |
| ENST00000591111.5:c.99070C>G (TTN) | ENSP00000465570.1:p.Leu33024Val | |
| ENST00000615779.4:c.99070C>G (TTN) | ENSP00000483597.1:p.Leu33024Val | |
| NM_001256850.1:c.99070C>G (TTN) | NP_001243779.1:p.Leu33024Val | |
| NM_001267550.2:c.103993C>G (TTN) MANE Select | NP_001254479.2:p.Leu34665Val | |
| NM_003319.4:c.76798C>G (TTN) | NP_003310.4:p.Leu25600Val | |
| NM_133378.4:c.96289C>G (TTN) | NP_596869.4:p.Leu32097Val | |
| NM_133432.3:c.77173C>G (TTN) | NP_597676.3:p.Leu25725Val | |
| NM_133437.4:c.77374C>G (TTN) | NP_597681.4:p.Leu25792Val | |
| NR_038271.1:n.446+8986G>C (TTN-AS1) | ||
| NR_038272.1:n.220-3110G>C (TTN-AS1) | ||
| XM_011511729.1:c.103090C>G (TTN) | XP_011510031.1:p.Leu34364Val | |
| XM_011511730.1:c.76984C>G (TTN) | XP_011510032.1:p.Leu25662Val | |
| XM_011511731.1:c.76843C>G (TTN) | XP_011510033.1:p.Leu25615Val | |
| XM_017004819.1:c.102886C>G (TTN) | XP_016860308.1:p.Leu34296Val | |
| XM_017004820.1:c.98284C>G (TTN) | XP_016860309.1:p.Leu32762Val | |
| XM_017004821.1:c.98281C>G (TTN) | XP_016860310.1:p.Leu32761Val | |
| XM_017004822.1:c.95323C>G (TTN) | XP_016860311.1:p.Leu31775Val | |
| XM_017004823.1:c.76939C>G (TTN) | XP_016860312.1:p.Leu25647Val | |
| XM_024453094.1:c.98434C>G (TTN) | XP_024308862.1:p.Leu32812Val | |
| XM_024453095.1:c.98431C>G (TTN) | XP_024308863.1:p.Leu32811Val | |
| XM_024453096.1:c.97864C>G (TTN) | XP_024308864.1:p.Leu32622Val | |
| XM_024453097.1:c.95206C>G (TTN) | XP_024308865.1:p.Leu31736Val | |
| XM_024453098.1:c.95125C>G (TTN) | XP_024308866.1:p.Leu31709Val | |
| XM_024453099.1:c.76888C>G (TTN) | XP_024308867.1:p.Leu25630Val | |
| XM_024453100.1:c.66742C>G (TTN) | XP_024308868.1:p.Leu22248Val |