Linked Data
dbSNP Id:
rs368949238
ExAC:
11:20805239 G / T
gnomAD v2:
11-20805239-G-T
gnomAD v4:
11-20783693-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783693G>T , CM000673.2:g.20783693G>T | GRCh38 |
| NC_000011.9:g.20805239G>T , CM000673.1:g.20805239G>T | GRCh37 |
| NC_000011.8:g.20761815G>T | NCBI36 |
| NG_047064.1:g.119143G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.198G>T MANE Select | ENSP00000349654.5:p.Glu66Asp | |
| ENST00000298925.9:c.282G>T | ENSP00000298925.5:p.Glu94Asp | |
| ENST00000325319.9:c.198G>T | ENSP00000317837.5:p.Glu66Asp | |
| ENST00000357134.9:c.198G>T | ENSP00000349654.5:p.Glu66Asp | |
| ENST00000524738.1:n.25G>T | ||
| ENST00000527873.5:n.219G>T | ||
| ENST00000528046.5:n.381G>T | ||
| ENST00000529595.1:n.86G>T | ||
| ENST00000532434.5:c.198G>T | ENSP00000437170.1:p.Glu66Asp | |
| ENST00000619031.4:c.-515G>T | ENSP00000479479.1:n.-515G>T | |
| NM_001288713.1:c.282G>T | NP_001275642.1:p.Glu94Asp | |
| NM_001288714.1:c.198G>T | NP_001275643.1:p.Glu66Asp | |
| NM_006157.4:c.198G>T | NP_006148.2:p.Glu66Asp | |
| NM_201551.2:c.198G>T | NP_963845.1:p.Glu66Asp | |
| NM_006157.5:c.198G>T MANE Select | NP_006148.2:p.Glu66Asp |