Linked Data
dbSNP Id:
rs1056115975
gnomAD v2:
1-74867522-G-T
gnomAD v3:
1-74401838-G-T
gnomAD v4:
1-74401838-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.74401838G>T , CM000663.2:g.74401838G>T | GRCh38 |
| NC_000001.10:g.74867522G>T , CM000663.1:g.74867522G>T | GRCh37 |
| NC_000001.9:g.74640110G>T | NCBI36 |
| NG_032939.2:g.208586G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326637.8:c.1772+31446G>T (TNNI3K) MANE Select | ENSP00000322251.3:n.1772+31446G>T | |
| ENST00000557284.7:c.2075+31446G>T (FPGT-TNNI3K) | ENSP00000450895.3:n.2075+31446G>T | |
| ENST00000648585.1:c.*1678+31446G>T (FPGT-TNNI3K) | ENSP00000497631.1:n.*1678+31446G>T | |
| ENST00000326637.7:c.1772+31446G>T (TNNI3K) | ENSP00000322251.3:n.1772+31446G>T | |
| ENST00000370899.7:c.2075+31446G>T (FPGT-TNNI3K) | ENSP00000359936.3:n.2075+31446G>T | |
| ENST00000525480.2:c.332-16330G>T (TNNI3K) | ||
| ENST00000534020.5:c.345-1G>T (TNNI3K) | ENSP00000434975.1:n.345-1G>T | |
| ENST00000557284.6:c.2114+31446G>T (FPGT-TNNI3K) | ENSP00000450895.2:n.2114+31446G>T | |
| NM_001112808.2:c.2114+31446G>T (FPGT-TNNI3K) | NP_001106279.2:n.2114+31446G>T | |
| NM_001199327.1:c.2114+31446G>T (FPGT-TNNI3K) | NP_001186256.2:n.2114+31446G>T | |
| NM_015978.2:c.1772+31446G>T (TNNI3K) | NP_057062.1:n.1772+31446G>T | |
| NM_015978.3:c.1772+31446G>T (TNNI3K) MANE Select | NP_057062.1:n.1772+31446G>T | |
| NM_001112808.3:c.2075+31446G>T (FPGT-TNNI3K) | NP_001106279.3:n.2075+31446G>T | |
| NM_001199327.2:c.2075+31446G>T (FPGT-TNNI3K) | NP_001186256.3:n.2075+31446G>T |