Linked Data
dbSNP Id:
rs777532217
ExAC:
11:20805175 C / T
gnomAD v2:
11-20805175-C-T
gnomAD v4:
11-20783629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783629C>T , CM000673.2:g.20783629C>T | GRCh38 |
| NC_000011.9:g.20805175C>T , CM000673.1:g.20805175C>T | GRCh37 |
| NC_000011.8:g.20761751C>T | NCBI36 |
| NG_047064.1:g.119079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.185-51C>T MANE Select | ENSP00000349654.5:n.185-51C>T | |
| ENST00000298925.9:c.269-51C>T | ENSP00000298925.5:n.269-51C>T | |
| ENST00000325319.9:c.185-51C>T | ENSP00000317837.5:n.185-51C>T | |
| ENST00000357134.9:c.185-51C>T | ENSP00000349654.5:n.185-51C>T | |
| ENST00000527873.5:n.206-51C>T | ||
| ENST00000528046.5:n.368-51C>T | ||
| ENST00000529595.1:n.73-51C>T | ||
| ENST00000532434.5:c.185-51C>T | ENSP00000437170.1:n.185-51C>T | |
| ENST00000619031.4:c.-528-51C>T | ENSP00000479479.1:n.-528-51C>T | |
| NM_001288713.1:c.269-51C>T | NP_001275642.1:n.269-51C>T | |
| NM_001288714.1:c.185-51C>T | NP_001275643.1:n.185-51C>T | |
| NM_006157.4:c.185-51C>T | NP_006148.2:n.185-51C>T | |
| NM_201551.2:c.185-51C>T | NP_963845.1:n.185-51C>T | |
| NM_006157.5:c.185-51C>T MANE Select | NP_006148.2:n.185-51C>T |