Linked Data
ClinVar Variation Id:
47649
dbSNP Id:
rs397517786
ExAC:
2:179398914 A / G
gnomAD v2:
2-179398914-A-G
gnomAD v3:
2-178534187-A-G
gnomAD v4:
2-178534187-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534187A>G , CM000664.2:g.178534187A>G | GRCh38 |
| NC_000002.11:g.179398914A>G , CM000664.1:g.179398914A>G | GRCh37 |
| NC_000002.10:g.179107160A>G | NCBI36 |
| NG_011618.3:g.301616T>C , LRG_391:g.301616T>C | |
| NG_051363.1:g.16361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94724T>C (TTN) | ENSP00000343764.6:p.Met31575Thr | |
| ENST00000342175.11:c.75809T>C (TTN) | ENSP00000340554.6:p.Met25270Thr | |
| ENST00000359218.10:c.75608T>C (TTN) | ENSP00000352154.5:p.Met25203Thr | |
| ENST00000342175.10:c.75809T>C (TTN) | ENSP00000340554.6:p.Met25270Thr | |
| ENST00000342992.10:c.94724T>C (TTN) | ENSP00000343764.6:p.Met31575Thr | |
| ENST00000359218.9:c.75608T>C (TTN) | ENSP00000352154.5:p.Met25203Thr | |
| ENST00000460472.6:c.75233T>C (TTN) | ENSP00000434586.1:p.Met25078Thr | |
| ENST00000589042.5:c.102428T>C (TTN) MANE Select | ENSP00000467141.1:p.Met34143Thr | |
| ENST00000591111.5:c.97505T>C (TTN) | ENSP00000465570.1:p.Met32502Thr | |
| ENST00000615779.4:c.97505T>C (TTN) | ENSP00000483597.1:p.Met32502Thr | |
| NM_001256850.1:c.97505T>C (TTN) | NP_001243779.1:p.Met32502Thr | |
| NM_001267550.2:c.102428T>C (TTN) MANE Select | NP_001254479.2:p.Met34143Thr | |
| NM_003319.4:c.75233T>C (TTN) | NP_003310.4:p.Met25078Thr | |
| NM_133378.4:c.94724T>C (TTN) | NP_596869.4:p.Met31575Thr | |
| NM_133432.3:c.75608T>C (TTN) | NP_597676.3:p.Met25203Thr | |
| NM_133437.4:c.75809T>C (TTN) | NP_597681.4:p.Met25270Thr | |
| NR_038271.1:n.446+10551A>G (TTN-AS1) | ||
| NR_038272.1:n.220-1545A>G (TTN-AS1) | ||
| XM_011511729.1:c.101525T>C (TTN) | XP_011510031.1:p.Met33842Thr | |
| XM_011511730.1:c.75419T>C (TTN) | XP_011510032.1:p.Met25140Thr | |
| XM_011511731.1:c.75278T>C (TTN) | XP_011510033.1:p.Met25093Thr | |
| XM_017004819.1:c.101321T>C (TTN) | XP_016860308.1:p.Met33774Thr | |
| XM_017004820.1:c.96719T>C (TTN) | XP_016860309.1:p.Met32240Thr | |
| XM_017004821.1:c.96716T>C (TTN) | XP_016860310.1:p.Met32239Thr | |
| XM_017004822.1:c.93758T>C (TTN) | XP_016860311.1:p.Met31253Thr | |
| XM_017004823.1:c.75374T>C (TTN) | XP_016860312.1:p.Met25125Thr | |
| XM_024453094.1:c.96869T>C (TTN) | XP_024308862.1:p.Met32290Thr | |
| XM_024453095.1:c.96866T>C (TTN) | XP_024308863.1:p.Met32289Thr | |
| XM_024453096.1:c.96299T>C (TTN) | XP_024308864.1:p.Met32100Thr | |
| XM_024453097.1:c.93641T>C (TTN) | XP_024308865.1:p.Met31214Thr | |
| XM_024453098.1:c.93560T>C (TTN) | XP_024308866.1:p.Met31187Thr | |
| XM_024453099.1:c.75323T>C (TTN) | XP_024308867.1:p.Met25108Thr | |
| XM_024453100.1:c.65177T>C (TTN) | XP_024308868.1:p.Met21726Thr |