Linked Data
ClinVar Variation Id:
165847
ClinVar RCV Id:
RCV000152220
RCV000642992
RCV001133042
RCV001133041
RCV001133043
RCV001311958
RCV001133044
RCV001136490
RCV003486674
RCV002336305
RCV004532691
dbSNP Id:
rs192962624
ExAC:
2:179438557 G / T
gnomAD v2:
2-179438557-G-T
gnomAD v3:
2-178573830-G-T
gnomAD v4:
2-178573830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573830G>T , CM000664.2:g.178573830G>T | GRCh38 |
| NC_000002.11:g.179438557G>T , CM000664.1:g.179438557G>T | GRCh37 |
| NC_000002.10:g.179146803G>T | NCBI36 |
| NG_011618.3:g.261973C>A , LRG_391:g.261973C>A | |
| NG_051363.1:g.56004G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64598C>A (TTN) | ENSP00000343764.6:p.Thr21533Asn | |
| ENST00000342175.11:c.45683C>A (TTN) | ENSP00000340554.6:p.Thr15228Asn | |
| ENST00000359218.10:c.45482C>A (TTN) | ENSP00000352154.5:p.Thr15161Asn | |
| ENST00000342175.10:c.45683C>A (TTN) | ENSP00000340554.6:p.Thr15228Asn | |
| ENST00000342992.10:c.64598C>A (TTN) | ENSP00000343764.6:p.Thr21533Asn | |
| ENST00000359218.9:c.45482C>A (TTN) | ENSP00000352154.5:p.Thr15161Asn | |
| ENST00000460472.6:c.45107C>A (TTN) | ENSP00000434586.1:p.Thr15036Asn | |
| ENST00000589042.5:c.72302C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr24101Asn | |
| ENST00000591111.5:c.67379C>A (TTN) | ENSP00000465570.1:p.Thr22460Asn | |
| ENST00000615779.4:c.67379C>A (TTN) | ENSP00000483597.1:p.Thr22460Asn | |
| NM_001256850.1:c.67379C>A (TTN) | NP_001243779.1:p.Thr22460Asn | |
| NM_001267550.2:c.72302C>A (TTN) MANE Select | NP_001254479.2:p.Thr24101Asn | |
| NM_003319.4:c.45107C>A (TTN) | NP_003310.4:p.Thr15036Asn | |
| NM_133378.4:c.64598C>A (TTN) | NP_596869.4:p.Thr21533Asn | |
| NM_133432.3:c.45482C>A (TTN) | NP_597676.3:p.Thr15161Asn | |
| NM_133437.4:c.45683C>A (TTN) | NP_597681.4:p.Thr15228Asn | |
| NR_038271.1:n.596+2381G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8742G>T (TTN-AS1) | ||
| XM_011511729.1:c.71399C>A (TTN) | XP_011510031.1:p.Thr23800Asn | |
| XM_011511730.1:c.45293C>A (TTN) | XP_011510032.1:p.Thr15098Asn | |
| XM_011511731.1:c.45152C>A (TTN) | XP_011510033.1:p.Thr15051Asn | |
| XM_017004819.1:c.71195C>A (TTN) | XP_016860308.1:p.Thr23732Asn | |
| XM_017004820.1:c.66593C>A (TTN) | XP_016860309.1:p.Thr22198Asn | |
| XM_017004821.1:c.66590C>A (TTN) | XP_016860310.1:p.Thr22197Asn | |
| XM_017004822.1:c.63632C>A (TTN) | XP_016860311.1:p.Thr21211Asn | |
| XM_017004823.1:c.45248C>A (TTN) | XP_016860312.1:p.Thr15083Asn | |
| XM_024453094.1:c.66743C>A (TTN) | XP_024308862.1:p.Thr22248Asn | |
| XM_024453095.1:c.66740C>A (TTN) | XP_024308863.1:p.Thr22247Asn | |
| XM_024453096.1:c.66173C>A (TTN) | XP_024308864.1:p.Thr22058Asn | |
| XM_024453097.1:c.63515C>A (TTN) | XP_024308865.1:p.Thr21172Asn | |
| XM_024453098.1:c.63434C>A (TTN) | XP_024308866.1:p.Thr21145Asn | |
| XM_024453099.1:c.45197C>A (TTN) | XP_024308867.1:p.Thr15066Asn | |
| XM_024453100.1:c.35051C>A (TTN) | XP_024308868.1:p.Thr11684Asn |