Linked Data
ClinVar Variation Id:
2015418
ClinVar RCV Id:
RCV002839445
dbSNP Id:
rs778628255
ExAC:
11:128709476 C / G
gnomAD v2:
11-128709476-C-G
gnomAD v4:
11-128839581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839581C>G , CM000673.2:g.128839581C>G | GRCh38 |
| NC_000011.9:g.128709476C>G , CM000673.1:g.128709476C>G | GRCh37 |
| NC_000011.8:g.128214686C>G | NCBI36 |
| NG_009379.1:g.32793G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.663G>C MANE Select | ENSP00000376434.1:p.Glu221Asp | |
| ENST00000324036.7:c.663G>C | ENSP00000316233.3:p.Glu221Asp | |
| ENST00000392664.2:c.720G>C | ENSP00000376432.2:p.Glu240Asp | |
| ENST00000392665.6:c.663G>C | ENSP00000376433.2:p.Glu221Asp | |
| ENST00000392666.5:c.663G>C | ENSP00000376434.1:p.Glu221Asp | |
| ENST00000440599.6:c.663G>C | ENSP00000406320.2:p.Glu221Asp | |
| NM_000220.4:c.720G>C | NP_000211.1:p.Glu240Asp | |
| NM_153764.2:c.663G>C | NP_722448.1:p.Glu221Asp | |
| NM_153765.2:c.714G>C | NP_722449.3:p.Glu238Asp | |
| NM_153766.2:c.663G>C | NP_722450.1:p.Glu221Asp | |
| NM_153767.3:c.663G>C | NP_722451.1:p.Glu221Asp | |
| NM_000220.6:c.720G>C | NP_000211.1:p.Glu240Asp | |
| NM_153764.3:c.663G>C | NP_722448.1:p.Glu221Asp | |
| NM_153765.3:c.714G>C | NP_722449.3:p.Glu238Asp | |
| NM_153766.3:c.663G>C MANE Select | NP_722450.1:p.Glu221Asp | |
| NM_153767.4:c.663G>C | NP_722451.1:p.Glu221Asp |