Linked Data
dbSNP Id:
rs1514177
gnomAD v2:
1-74991402-C-G
gnomAD v3:
1-74525718-C-G
gnomAD v4:
1-74525718-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.74525718C>G , CM000663.2:g.74525718C>G | GRCh38 |
| NC_000001.10:g.74991402C>G , CM000663.1:g.74991402C>G | GRCh37 |
| NC_000001.9:g.74763990C>G | NCBI36 |
| NG_032939.2:g.332466C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326637.8:c.2352-14516C>G (TNNI3K) MANE Select | ENSP00000322251.3:n.2352-14516C>G | |
| ENST00000557284.7:c.2655-14516C>G (FPGT-TNNI3K) | ENSP00000450895.3:n.2655-14516C>G | |
| ENST00000648585.1:c.*2258-14516C>G (FPGT-TNNI3K) | ENSP00000497631.1:n.*2258-14516C>G | |
| ENST00000326637.7:c.2352-14516C>G (TNNI3K) | ENSP00000322251.3:n.2352-14516C>G | |
| ENST00000557284.6:c.2694-14516C>G (FPGT-TNNI3K) | ENSP00000450895.2:n.2694-14516C>G | |
| NM_001112808.2:c.2694-14516C>G (FPGT-TNNI3K) | NP_001106279.2:n.2694-14516C>G | |
| NM_015978.2:c.2352-14516C>G (TNNI3K) | NP_057062.1:n.2352-14516C>G | |
| XM_011542511.1:c.49+11086G>C (LRRC53) | XP_011540813.1:n.49+11086G>C | |
| XM_011542512.3:c.49+11086G>C (LRRC53) | XP_011540814.2:n.49+11086G>C | |
| XM_017003081.1:c.49+11086G>C (LRRC53) | XP_016858570.1:n.49+11086G>C | |
| NM_015978.3:c.2352-14516C>G (TNNI3K) MANE Select | NP_057062.1:n.2352-14516C>G | |
| NM_001112808.3:c.2655-14516C>G (FPGT-TNNI3K) | NP_001106279.3:n.2655-14516C>G |