Linked Data
ClinVar Variation Id:
178153
ClinVar RCV Id:
RCV000154870
RCV000157567
RCV000172603
RCV000248440
RCV000768824
RCV001082313
RCV001134948
RCV001129917
RCV001134949
RCV001134950
RCV001134951
dbSNP Id:
rs201218828
ExAC:
2:179396568 T / G
gnomAD v2:
2-179396568-T-G
gnomAD v3:
2-178531841-T-G
gnomAD v4:
2-178531841-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531841T>G , CM000664.2:g.178531841T>G | GRCh38 |
| NC_000002.11:g.179396568T>G , CM000664.1:g.179396568T>G | GRCh37 |
| NC_000002.10:g.179104814T>G | NCBI36 |
| NG_011618.3:g.303962A>C , LRG_391:g.303962A>C | |
| NG_051363.1:g.14015T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97070A>C (TTN) | ENSP00000343764.6:p.Glu32357Ala | |
| ENST00000342175.11:c.78155A>C (TTN) | ENSP00000340554.6:p.Glu26052Ala | |
| ENST00000359218.10:c.77954A>C (TTN) | ENSP00000352154.5:p.Glu25985Ala | |
| ENST00000342175.10:c.78155A>C (TTN) | ENSP00000340554.6:p.Glu26052Ala | |
| ENST00000342992.10:c.97070A>C (TTN) | ENSP00000343764.6:p.Glu32357Ala | |
| ENST00000359218.9:c.77954A>C (TTN) | ENSP00000352154.5:p.Glu25985Ala | |
| ENST00000460472.6:c.77579A>C (TTN) | ENSP00000434586.1:p.Glu25860Ala | |
| ENST00000589042.5:c.104774A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu34925Ala | |
| ENST00000591111.5:c.99851A>C (TTN) | ENSP00000465570.1:p.Glu33284Ala | |
| ENST00000615779.4:c.99851A>C (TTN) | ENSP00000483597.1:p.Glu33284Ala | |
| NM_001256850.1:c.99851A>C (TTN) | NP_001243779.1:p.Glu33284Ala | |
| NM_001267550.2:c.104774A>C (TTN) MANE Select | NP_001254479.2:p.Glu34925Ala | |
| NM_003319.4:c.77579A>C (TTN) | NP_003310.4:p.Glu25860Ala | |
| NM_133378.4:c.97070A>C (TTN) | NP_596869.4:p.Glu32357Ala | |
| NM_133432.3:c.77954A>C (TTN) | NP_597676.3:p.Glu25985Ala | |
| NM_133437.4:c.78155A>C (TTN) | NP_597681.4:p.Glu26052Ala | |
| NR_038271.1:n.446+8205T>G (TTN-AS1) | ||
| NR_038272.1:n.220-3891T>G (TTN-AS1) | ||
| XM_011511729.1:c.103871A>C (TTN) | XP_011510031.1:p.Glu34624Ala | |
| XM_011511730.1:c.77765A>C (TTN) | XP_011510032.1:p.Glu25922Ala | |
| XM_011511731.1:c.77624A>C (TTN) | XP_011510033.1:p.Glu25875Ala | |
| XM_017004819.1:c.103667A>C (TTN) | XP_016860308.1:p.Glu34556Ala | |
| XM_017004820.1:c.99065A>C (TTN) | XP_016860309.1:p.Glu33022Ala | |
| XM_017004821.1:c.99062A>C (TTN) | XP_016860310.1:p.Glu33021Ala | |
| XM_017004822.1:c.96104A>C (TTN) | XP_016860311.1:p.Glu32035Ala | |
| XM_017004823.1:c.77720A>C (TTN) | XP_016860312.1:p.Glu25907Ala | |
| XM_024453094.1:c.99215A>C (TTN) | XP_024308862.1:p.Glu33072Ala | |
| XM_024453095.1:c.99212A>C (TTN) | XP_024308863.1:p.Glu33071Ala | |
| XM_024453096.1:c.98645A>C (TTN) | XP_024308864.1:p.Glu32882Ala | |
| XM_024453097.1:c.95987A>C (TTN) | XP_024308865.1:p.Glu31996Ala | |
| XM_024453098.1:c.95906A>C (TTN) | XP_024308866.1:p.Glu31969Ala | |
| XM_024453099.1:c.77669A>C (TTN) | XP_024308867.1:p.Glu25890Ala | |
| XM_024453100.1:c.67523A>C (TTN) | XP_024308868.1:p.Glu22508Ala |