Linked Data
ClinVar Variation Id:
228133
ClinVar RCV Id:
RCV000222805
RCV000540427
RCV001134111
RCV001134113
RCV001134110
RCV001134112
RCV001134114
RCV001311236
dbSNP Id:
rs201567815
ExAC:
2:179442361 C / T
gnomAD v2:
2-179442361-C-T
gnomAD v3:
2-178577634-C-T
gnomAD v4:
2-178577634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577634C>T , CM000664.2:g.178577634C>T | GRCh38 |
| NC_000002.11:g.179442361C>T , CM000664.1:g.179442361C>T | GRCh37 |
| NC_000002.10:g.179150607C>T | NCBI36 |
| NG_011618.3:g.258169G>A , LRG_391:g.258169G>A | |
| NG_051363.1:g.59808C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61088G>A (TTN) | ENSP00000343764.6:p.Ser20363Asn | |
| ENST00000342175.11:c.42173G>A (TTN) | ENSP00000340554.6:p.Ser14058Asn | |
| ENST00000359218.10:c.41972G>A (TTN) | ENSP00000352154.5:p.Ser13991Asn | |
| ENST00000342175.10:c.42173G>A (TTN) | ENSP00000340554.6:p.Ser14058Asn | |
| ENST00000342992.10:c.61088G>A (TTN) | ENSP00000343764.6:p.Ser20363Asn | |
| ENST00000359218.9:c.41972G>A (TTN) | ENSP00000352154.5:p.Ser13991Asn | |
| ENST00000460472.6:c.41597G>A (TTN) | ENSP00000434586.1:p.Ser13866Asn | |
| ENST00000589042.5:c.68792G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser22931Asn | |
| ENST00000591111.5:c.63869G>A (TTN) | ENSP00000465570.1:p.Ser21290Asn | |
| ENST00000615779.4:c.63869G>A (TTN) | ENSP00000483597.1:p.Ser21290Asn | |
| NM_001256850.1:c.63869G>A (TTN) | NP_001243779.1:p.Ser21290Asn | |
| NM_001267550.2:c.68792G>A (TTN) MANE Select | NP_001254479.2:p.Ser22931Asn | |
| NM_003319.4:c.41597G>A (TTN) | NP_003310.4:p.Ser13866Asn | |
| NM_133378.4:c.61088G>A (TTN) | NP_596869.4:p.Ser20363Asn | |
| NM_133432.3:c.41972G>A (TTN) | NP_597676.3:p.Ser13991Asn | |
| NM_133437.4:c.42173G>A (TTN) | NP_597681.4:p.Ser14058Asn | |
| NR_038271.1:n.596+6185C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4938C>T (TTN-AS1) | ||
| XM_011511729.1:c.67889G>A (TTN) | XP_011510031.1:p.Ser22630Asn | |
| XM_011511730.1:c.41783G>A (TTN) | XP_011510032.1:p.Ser13928Asn | |
| XM_011511731.1:c.41642G>A (TTN) | XP_011510033.1:p.Ser13881Asn | |
| XM_017004819.1:c.67685G>A (TTN) | XP_016860308.1:p.Ser22562Asn | |
| XM_017004820.1:c.63083G>A (TTN) | XP_016860309.1:p.Ser21028Asn | |
| XM_017004821.1:c.63080G>A (TTN) | XP_016860310.1:p.Ser21027Asn | |
| XM_017004822.1:c.60122G>A (TTN) | XP_016860311.1:p.Ser20041Asn | |
| XM_017004823.1:c.41738G>A (TTN) | XP_016860312.1:p.Ser13913Asn | |
| XM_024453094.1:c.63233G>A (TTN) | XP_024308862.1:p.Ser21078Asn | |
| XM_024453095.1:c.63230G>A (TTN) | XP_024308863.1:p.Ser21077Asn | |
| XM_024453096.1:c.62663G>A (TTN) | XP_024308864.1:p.Ser20888Asn | |
| XM_024453097.1:c.60005G>A (TTN) | XP_024308865.1:p.Ser20002Asn | |
| XM_024453098.1:c.59924G>A (TTN) | XP_024308866.1:p.Ser19975Asn | |
| XM_024453099.1:c.41687G>A (TTN) | XP_024308867.1:p.Ser13896Asn | |
| XM_024453100.1:c.31541G>A (TTN) | XP_024308868.1:p.Ser10514Asn |