Linked Data
ClinVar Variation Id:
620630
ClinVar RCV Id:
RCV000761158
dbSNP Id:
rs1564987636
gnomAD v3:
11-32417592-C-T
gnomAD v4:
11-32417592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32417592C>T , CM000673.2:g.32417592C>T | GRCh38 |
| NC_000011.9:g.32439138C>T , CM000673.1:g.32439138C>T | GRCh37 |
| NC_000011.8:g.32395714C>T | NCBI36 |
| NG_009272.1:g.22950G>A , LRG_525:g.22950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.950G>A | ENSP00000331327.5:p.Gly317Glu | |
| ENST00000379077.9:c.950G>A | ENSP00000368368.5:p.Gly317Glu | |
| ENST00000379079.8:c.299G>A | ENSP00000368370.2:p.Gly100Glu | |
| ENST00000448076.9:c.950G>A | ENSP00000413452.5:p.Gly317Glu | |
| ENST00000452863.10:c.950G>A MANE Select | ENSP00000415516.5:p.Gly317Glu | |
| ENST00000639563.3:c.950G>A | ENSP00000492269.3:p.Gly317Glu | |
| ENST00000640146.2:c.326G>A | ENSP00000491984.2:p.Gly109Glu | |
| ENST00000332351.7:c.935G>A | ENSP00000331327.3:p.Gly312Glu | |
| ENST00000379077.7:c.935G>A | ENSP00000368368.3:p.Gly312Glu | |
| ENST00000379079.6:c.299G>A | ENSP00000368370.2:p.Gly100Glu | |
| ENST00000448076.7:c.935G>A | ENSP00000413452.3:p.Gly312Glu | |
| ENST00000452863.7:c.935G>A | ENSP00000415516.3:p.Gly312Glu | |
| ENST00000527775.1:c.188G>A | ENSP00000435351.1:p.Gly63Glu | |
| ENST00000527882.5:c.6G>A | ||
| ENST00000530998.5:c.299G>A | ENSP00000435307.1:p.Gly100Glu | |
| NM_000378.4:c.935G>A | NP_000369.3:p.Gly312Glu | |
| NM_001198551.1:c.299G>A , LRG_525t2:c.299G>A | NP_001185480.1:p.Gly100Glu | |
| NM_001198552.1:c.299G>A | NP_001185481.1:p.Gly100Glu | |
| NM_024424.3:c.935G>A | NP_077742.2:p.Gly312Glu | |
| NM_024426.4:c.935G>A | NP_077744.3:p.Gly312Glu | |
| NM_000378.5:c.950G>A | NP_000369.4:p.Gly317Glu | |
| NM_024424.4:c.950G>A | NP_077742.3:p.Gly317Glu | |
| NM_024426.5:c.950G>A | NP_077744.4:p.Gly317Glu | |
| NR_160306.1:n.1129G>A | ||
| NM_000378.6:c.950G>A | NP_000369.4:p.Gly317Glu | |
| NM_001198552.2:c.299G>A | NP_001185481.1:p.Gly100Glu | |
| NM_024424.5:c.950G>A | NP_077742.3:p.Gly317Glu | |
| NM_024426.6:c.950G>A MANE Select | NP_077744.4:p.Gly317Glu |