Linked Data
dbSNP Id:
rs771681489
ExAC:
5:56177711 A / C
gnomAD v2:
5-56177711-A-C
gnomAD v3:
5-56881884-A-C
gnomAD v4:
5-56881884-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881884A>C , CM000667.2:g.56881884A>C | GRCh38 |
| NC_000005.9:g.56177711A>C , CM000667.1:g.56177711A>C | GRCh37 |
| NC_000005.8:g.56213468A>C | NCBI36 |
| NG_031884.1:g.71812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2684A>C MANE Select | ENSP00000382423.3:p.Glu895Ala | |
| ENST00000399503.3:c.2684A>C | ENSP00000382423.3:p.Glu895Ala | |
| NM_005921.1:c.2684A>C | NP_005912.1:p.Glu895Ala | |
| XM_005248519.3:c.2306A>C | XP_005248576.2:p.Glu769Ala | |
| XM_011543406.1:c.2429A>C | XP_011541708.1:p.Glu810Ala | |
| XM_011543407.1:c.2405A>C | XP_011541709.1:p.Glu802Ala | |
| XM_011543408.1:c.2684A>C | XP_011541710.1:p.Glu895Ala | |
| XM_017009484.1:c.2273A>C | XP_016864973.1:p.Glu758Ala | |
| XM_017009485.1:c.2195A>C | XP_016864974.1:p.Glu732Ala | |
| XR_001742068.2:n.2715A>C | ||
| NM_005921.2:c.2684A>C MANE Select | NP_005912.1:p.Glu895Ala |