Linked Data
ClinVar Variation Id:
64392
dbSNP Id:
rs185212943
ExAC:
11:128709877 T / C
gnomAD v2:
11-128709877-T-C
gnomAD v3:
11-128839982-T-C
gnomAD v4:
11-128839982-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839982T>C , CM000673.2:g.128839982T>C | GRCh38 |
| NC_000011.9:g.128709877T>C , CM000673.1:g.128709877T>C | GRCh37 |
| NC_000011.8:g.128215087T>C | NCBI36 |
| NG_009379.1:g.32392A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.262A>G MANE Select | ENSP00000376434.1:p.Lys88Glu | |
| ENST00000324003.3:c.262A>G | ENSP00000316136.3:p.Lys88Glu | |
| ENST00000324036.7:c.262A>G | ENSP00000316233.3:p.Lys88Glu | |
| ENST00000392664.2:c.319A>G | ENSP00000376432.2:p.Lys107Glu | |
| ENST00000392665.6:c.262A>G | ENSP00000376433.2:p.Lys88Glu | |
| ENST00000392666.5:c.262A>G | ENSP00000376434.1:p.Lys88Glu | |
| ENST00000440599.6:c.262A>G | ENSP00000406320.2:p.Lys88Glu | |
| NM_000220.4:c.319A>G | NP_000211.1:p.Lys107Glu | |
| NM_153764.2:c.262A>G | NP_722448.1:p.Lys88Glu | |
| NM_153765.2:c.313A>G | NP_722449.3:p.Lys105Glu | |
| NM_153766.2:c.262A>G | NP_722450.1:p.Lys88Glu | |
| NM_153767.3:c.262A>G | NP_722451.1:p.Lys88Glu | |
| NM_000220.6:c.319A>G | NP_000211.1:p.Lys107Glu | |
| NM_153764.3:c.262A>G | NP_722448.1:p.Lys88Glu | |
| NM_153765.3:c.313A>G | NP_722449.3:p.Lys105Glu | |
| NM_153766.3:c.262A>G MANE Select | NP_722450.1:p.Lys88Glu | |
| NM_153767.4:c.262A>G | NP_722451.1:p.Lys88Glu |