Linked Data
ClinVar Variation Id:
1054219
dbSNP Id:
rs142176915
ExAC:
2:15542324 G / T
gnomAD v2:
2-15542324-G-T
gnomAD v3:
2-15402200-G-T
gnomAD v4:
2-15402200-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15402200G>T , CM000664.2:g.15402200G>T | GRCh38 |
| NC_000002.11:g.15542324G>T , CM000664.1:g.15542324G>T | GRCh37 |
| NC_000002.10:g.15459775G>T | NCBI36 |
| NG_032964.1:g.164149C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.1136C>A | ||
| ENST00000700062.1:c.1136C>A | ||
| ENST00000700065.1:n.3052C>A | ||
| ENST00000281513.10:c.3039C>A MANE Select | ENSP00000281513.5:p.Asp1013Glu | |
| ENST00000281513.9:c.3039C>A | ENSP00000281513.5:p.Asp1013Glu | |
| ENST00000429842.1:c.331C>A | ||
| ENST00000441755.5:c.180C>A | ENSP00000396501.1:p.Asp60Glu | |
| ENST00000442506.5:c.182C>A | ||
| NM_015909.3:c.3039C>A | NP_056993.2:p.Asp1013Glu | |
| NR_052013.2:n.3083C>A | ||
| XM_011510357.1:c.2910C>A | XP_011508659.1:p.Asp970Glu | |
| XM_011510358.1:c.3039C>A | XP_011508660.1:p.Asp1013Glu | |
| XM_011510359.1:c.2400C>A | XP_011508661.1:p.Asp800Glu | |
| XM_011510360.1:c.840C>A | XP_011508662.1:p.Asp280Glu | |
| XM_011510361.1:c.831C>A | XP_011508663.1:p.Asp277Glu | |
| XM_011510357.2:c.2910C>A | XP_011508659.1:p.Asp970Glu | |
| XM_011510358.2:c.3039C>A | XP_011508660.1:p.Asp1013Glu | |
| XM_011510360.2:c.840C>A | XP_011508662.1:p.Asp280Glu | |
| XM_011510361.2:c.831C>A | XP_011508663.1:p.Asp277Glu | |
| XM_017004317.1:c.3039C>A | XP_016859806.1:p.Asp1013Glu | |
| XM_024452961.1:c.2400C>A | XP_024308729.1:p.Asp800Glu | |
| NM_015909.4:c.3039C>A MANE Select | NP_056993.2:p.Asp1013Glu | |
| NR_052013.3:n.3069C>A |