Linked Data
ClinVar Variation Id:
202932
ClinVar RCV Id:
RCV000525045
RCV001134632
RCV001134633
RCV001134630
RCV001704925
RCV001134629
RCV001134631
RCV002354508
RCV003330547
dbSNP Id:
rs72648225
ExAC:
2:179424857 T / C
gnomAD v2:
2-179424857-T-C
gnomAD v3:
2-178560130-T-C
gnomAD v4:
2-178560130-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560130T>C , CM000664.2:g.178560130T>C | GRCh38 |
| NC_000002.11:g.179424857T>C , CM000664.1:g.179424857T>C | GRCh37 |
| NC_000002.10:g.179133103T>C | NCBI36 |
| NG_011618.3:g.275673A>G , LRG_391:g.275673A>G | |
| NG_051363.1:g.42304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78298A>G (TTN) | ENSP00000343764.6:p.Ile26100Val | |
| ENST00000342175.11:c.59383A>G (TTN) | ENSP00000340554.6:p.Ile19795Val | |
| ENST00000359218.10:c.59182A>G (TTN) | ENSP00000352154.5:p.Ile19728Val | |
| ENST00000342175.10:c.59383A>G (TTN) | ENSP00000340554.6:p.Ile19795Val | |
| ENST00000342992.10:c.78298A>G (TTN) | ENSP00000343764.6:p.Ile26100Val | |
| ENST00000359218.9:c.59182A>G (TTN) | ENSP00000352154.5:p.Ile19728Val | |
| ENST00000460472.6:c.58807A>G (TTN) | ENSP00000434586.1:p.Ile19603Val | |
| ENST00000589042.5:c.86002A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile28668Val | |
| ENST00000591111.5:c.81079A>G (TTN) | ENSP00000465570.1:p.Ile27027Val | |
| ENST00000615779.4:c.81079A>G (TTN) | ENSP00000483597.1:p.Ile27027Val | |
| NM_001256850.1:c.81079A>G (TTN) | NP_001243779.1:p.Ile27027Val | |
| NM_001267550.2:c.86002A>G (TTN) MANE Select | NP_001254479.2:p.Ile28668Val | |
| NM_003319.4:c.58807A>G (TTN) | NP_003310.4:p.Ile19603Val | |
| NM_133378.4:c.78298A>G (TTN) | NP_596869.4:p.Ile26100Val | |
| NM_133432.3:c.59182A>G (TTN) | NP_597676.3:p.Ile19728Val | |
| NM_133437.4:c.59383A>G (TTN) | NP_597681.4:p.Ile19795Val | |
| NR_038271.1:n.447-11170T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+17769T>C (TTN-AS1) | ||
| XM_011511729.1:c.85099A>G (TTN) | XP_011510031.1:p.Ile28367Val | |
| XM_011511730.1:c.58993A>G (TTN) | XP_011510032.1:p.Ile19665Val | |
| XM_011511731.1:c.58852A>G (TTN) | XP_011510033.1:p.Ile19618Val | |
| XM_017004819.1:c.84895A>G (TTN) | XP_016860308.1:p.Ile28299Val | |
| XM_017004820.1:c.80293A>G (TTN) | XP_016860309.1:p.Ile26765Val | |
| XM_017004821.1:c.80290A>G (TTN) | XP_016860310.1:p.Ile26764Val | |
| XM_017004822.1:c.77332A>G (TTN) | XP_016860311.1:p.Ile25778Val | |
| XM_017004823.1:c.58948A>G (TTN) | XP_016860312.1:p.Ile19650Val | |
| XM_024453094.1:c.80443A>G (TTN) | XP_024308862.1:p.Ile26815Val | |
| XM_024453095.1:c.80440A>G (TTN) | XP_024308863.1:p.Ile26814Val | |
| XM_024453096.1:c.79873A>G (TTN) | XP_024308864.1:p.Ile26625Val | |
| XM_024453097.1:c.77215A>G (TTN) | XP_024308865.1:p.Ile25739Val | |
| XM_024453098.1:c.77134A>G (TTN) | XP_024308866.1:p.Ile25712Val | |
| XM_024453099.1:c.58897A>G (TTN) | XP_024308867.1:p.Ile19633Val | |
| XM_024453100.1:c.48751A>G (TTN) | XP_024308868.1:p.Ile16251Val |