Linked Data
dbSNP Id:
rs11604153
gnomAD v2:
11-21015964-C-T
gnomAD v3:
11-20994418-C-T
gnomAD v4:
11-20994418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20994418C>T , CM000673.2:g.20994418C>T | GRCh38 |
| NC_000011.9:g.21015964C>T , CM000673.1:g.21015964C>T | GRCh37 |
| NC_000011.8:g.20972540C>T | NCBI36 |
| NG_047064.1:g.329868C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357134.10:c.1300+33858C>T MANE Select | ENSP00000349654.5:n.1300+33858C>T | |
| ENST00000298925.9:c.1384+33858C>T | ENSP00000298925.5:n.1384+33858C>T | |
| ENST00000325319.9:c.1129+33858C>T | ENSP00000317837.5:n.1129+33858C>T | |
| ENST00000357134.9:c.1300+33858C>T | ENSP00000349654.5:n.1300+33858C>T | |
| ENST00000530672.1:n.380+33858C>T | ||
| ENST00000532434.5:c.1300+33858C>T | ENSP00000437170.1:n.1300+33858C>T | |
| ENST00000619031.4:c.580+33858C>T | ENSP00000479479.1:n.580+33858C>T | |
| NM_001288713.1:c.1384+33858C>T | NP_001275642.1:n.1384+33858C>T | |
| NM_001288714.1:c.1129+33858C>T | NP_001275643.1:n.1129+33858C>T | |
| NM_006157.4:c.1300+33858C>T | NP_006148.2:n.1300+33858C>T | |
| NM_201551.2:c.1300+33858C>T | NP_963845.1:n.1300+33858C>T | |
| XM_011520119.1:c.343+33858C>T | XP_011518421.1:n.343+33858C>T | |
| NM_006157.5:c.1300+33858C>T MANE Select | NP_006148.2:n.1300+33858C>T |