Linked Data
dbSNP Id:
rs759526192
ExAC:
1:74867672 T / TTA
gnomAD v2:
1-74867672-T-TTA
gnomAD v3:
1-74401988-T-TTA
gnomAD v4:
1-74401988-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.74402000_74402001dup , CM000663.2:g.74402000_74402001dup | GRCh38 |
| NC_000001.10:g.74867684_74867685dup , CM000663.1:g.74867684_74867685dup | GRCh37 |
| NC_000001.9:g.74640272_74640273dup | NCBI36 |
| NG_032939.2:g.208748_208749dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326637.8:c.1772+31608_1772+31609dup (TNNI3K) MANE Select | ENSP00000322251.3:n.1772+31608_1772+31609dup | |
| ENST00000557284.7:c.2075+31608_2075+31609dup (FPGT-TNNI3K) | ENSP00000450895.3:n.2075+31608_2075+31609dup | |
| ENST00000648585.1:c.*1678+31608_*1678+31609dup (FPGT-TNNI3K) | ENSP00000497631.1:n.*1678+31608_*1678+31609dup | |
| ENST00000326637.7:c.1772+31608_1772+31609dup (TNNI3K) | ENSP00000322251.3:n.1772+31608_1772+31609dup | |
| ENST00000370899.7:c.2075+31608_2075+31609dup (FPGT-TNNI3K) | ENSP00000359936.3:n.2075+31608_2075+31609dup | |
| ENST00000525480.2:c.332-16168_332-16167dup (TNNI3K) | ||
| ENST00000534020.5:c.463+43_463+44dup (TNNI3K) | ENSP00000434975.1:n.463+43_463+44dup | |
| ENST00000557284.6:c.2114+31608_2114+31609dup (FPGT-TNNI3K) | ENSP00000450895.2:n.2114+31608_2114+31609dup | |
| NM_001112808.2:c.2114+31608_2114+31609dup (FPGT-TNNI3K) | NP_001106279.2:n.2114+31608_2114+31609dup | |
| NM_001199327.1:c.2114+31608_2114+31609dup (FPGT-TNNI3K) | NP_001186256.2:n.2114+31608_2114+31609dup | |
| NM_015978.2:c.1772+31608_1772+31609dup (TNNI3K) | NP_057062.1:n.1772+31608_1772+31609dup | |
| NM_015978.3:c.1772+31608_1772+31609dup (TNNI3K) MANE Select | NP_057062.1:n.1772+31608_1772+31609dup | |
| NM_001112808.3:c.2075+31608_2075+31609dup (FPGT-TNNI3K) | NP_001106279.3:n.2075+31608_2075+31609dup | |
| NM_001199327.2:c.2075+31608_2075+31609dup (FPGT-TNNI3K) | NP_001186256.3:n.2075+31608_2075+31609dup |