Linked Data
dbSNP Id:
rs1465073702
gnomAD v4:
11-20783777-G-A
MyVariant Identifiers:
chr11:g.20805323G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783777G>A , CM000673.2:g.20783777G>A | GRCh38 |
| NC_000011.9:g.20805323G>A , CM000673.1:g.20805323G>A | GRCh37 |
| NC_000011.8:g.20761899G>A | NCBI36 |
| NG_047064.1:g.119227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.282G>A MANE Select | ENSP00000349654.5:p.Gln94= | |
| ENST00000298925.9:c.366G>A | ENSP00000298925.5:p.Gln122= | |
| ENST00000325319.9:c.282G>A | ENSP00000317837.5:p.Gln94= | |
| ENST00000357134.9:c.282G>A | ENSP00000349654.5:p.Gln94= | |
| ENST00000524738.1:n.109G>A | ||
| ENST00000527873.5:n.303G>A | ||
| ENST00000528046.5:n.465G>A | ||
| ENST00000529595.1:n.170G>A | ||
| ENST00000532434.5:c.282G>A | ENSP00000437170.1:p.Gln94= | |
| ENST00000619031.4:c.-431G>A | ENSP00000479479.1:n.-431G>A | |
| NM_001288713.1:c.366G>A | NP_001275642.1:p.Gln122= | |
| NM_001288714.1:c.282G>A | NP_001275643.1:p.Gln94= | |
| NM_006157.4:c.282G>A | NP_006148.2:p.Gln94= | |
| NM_201551.2:c.282G>A | NP_963845.1:p.Gln94= | |
| NM_006157.5:c.282G>A MANE Select | NP_006148.2:p.Gln94= |