Linked Data
ClinVar Variation Id:
179046
ClinVar RCV Id:
RCV000155830
RCV000272410
RCV000308825
RCV000251954
RCV000333302
RCV000357685
RCV000363270
RCV001080531
RCV000756849
RCV001798516
dbSNP Id:
rs186563991
ExAC:
2:179458701 T / C
gnomAD v2:
2-179458701-T-C
gnomAD v3:
2-178593974-T-C
gnomAD v4:
2-178593974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593974T>C , CM000664.2:g.178593974T>C | GRCh38 |
| NC_000002.11:g.179458701T>C , CM000664.1:g.179458701T>C | GRCh37 |
| NC_000002.10:g.179166947T>C | NCBI36 |
| NG_011618.3:g.241829A>G , LRG_391:g.241829A>G | |
| NG_051363.1:g.76148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50715A>G (TTN) | ENSP00000343764.6:p.Gln16905= | |
| ENST00000342175.11:c.31800A>G (TTN) | ENSP00000340554.6:p.Gln10600= | |
| ENST00000359218.10:c.31599A>G (TTN) | ENSP00000352154.5:p.Gln10533= | |
| ENST00000342175.10:c.31800A>G (TTN) | ENSP00000340554.6:p.Gln10600= | |
| ENST00000342992.10:c.50715A>G (TTN) | ENSP00000343764.6:p.Gln16905= | |
| ENST00000359218.9:c.31599A>G (TTN) | ENSP00000352154.5:p.Gln10533= | |
| ENST00000460472.6:c.31224A>G (TTN) | ENSP00000434586.1:p.Gln10408= | |
| ENST00000589042.5:c.58419A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln19473= | |
| ENST00000591111.5:c.53496A>G (TTN) | ENSP00000465570.1:p.Gln17832= | |
| ENST00000615779.4:c.53496A>G (TTN) | ENSP00000483597.1:p.Gln17832= | |
| NM_001256850.1:c.53496A>G (TTN) | NP_001243779.1:p.Gln17832= | |
| NM_001267550.2:c.58419A>G (TTN) MANE Select | NP_001254479.2:p.Gln19473= | |
| NM_003319.4:c.31224A>G (TTN) | NP_003310.4:p.Gln10408= | |
| NM_133378.4:c.50715A>G (TTN) | NP_596869.4:p.Gln16905= | |
| NM_133432.3:c.31599A>G (TTN) | NP_597676.3:p.Gln10533= | |
| NM_133437.4:c.31800A>G (TTN) | NP_597681.4:p.Gln10600= | |
| NR_038271.1:n.597-3622T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+2660T>C (TTN-AS1) | ||
| XM_011511729.1:c.57516A>G (TTN) | XP_011510031.1:p.Gln19172= | |
| XM_011511730.1:c.31410A>G (TTN) | XP_011510032.1:p.Gln10470= | |
| XM_011511731.1:c.31269A>G (TTN) | XP_011510033.1:p.Gln10423= | |
| XM_017004819.1:c.57312A>G (TTN) | XP_016860308.1:p.Gln19104= | |
| XM_017004820.1:c.52710A>G (TTN) | XP_016860309.1:p.Gln17570= | |
| XM_017004821.1:c.52707A>G (TTN) | XP_016860310.1:p.Gln17569= | |
| XM_017004822.1:c.49749A>G (TTN) | XP_016860311.1:p.Gln16583= | |
| XM_017004823.1:c.31365A>G (TTN) | XP_016860312.1:p.Gln10455= | |
| XM_024453094.1:c.52860A>G (TTN) | XP_024308862.1:p.Gln17620= | |
| XM_024453095.1:c.52857A>G (TTN) | XP_024308863.1:p.Gln17619= | |
| XM_024453096.1:c.52290A>G (TTN) | XP_024308864.1:p.Gln17430= | |
| XM_024453097.1:c.49632A>G (TTN) | XP_024308865.1:p.Gln16544= | |
| XM_024453098.1:c.49551A>G (TTN) | XP_024308866.1:p.Gln16517= | |
| XM_024453099.1:c.31314A>G (TTN) | XP_024308867.1:p.Gln10438= | |
| XM_024453100.1:c.21168A>G (TTN) | XP_024308868.1:p.Gln7056= |