Linked Data
ClinVar Variation Id:
323518
dbSNP Id:
rs13306788
ExAC:
17:42338136 C / A
gnomAD v2:
17-42338136-C-A
gnomAD v3:
17-44260768-C-A
gnomAD v4:
17-44260768-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44260768C>A , CM000679.2:g.44260768C>A | GRCh38 |
| NC_000017.10:g.42338136C>A , CM000679.1:g.42338136C>A | GRCh37 |
| NC_000017.9:g.39693662C>A | NCBI36 |
| NG_007498.1:g.12367G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.216G>T MANE Select | ENSP00000262418.6:p.Glu72Asp | |
| ENST00000262418.10:c.216G>T | ENSP00000262418.6:p.Glu72Asp | |
| ENST00000399246.3:c.216G>T | ENSP00000382190.3:p.Glu72Asp | |
| ENST00000471005.5:n.150G>T | ||
| ENST00000497360.5:n.355G>T | ||
| NM_000342.3:c.216G>T | NP_000333.1:p.Glu72Asp | |
| XM_005257593.3:c.21G>T | XP_005257650.1:p.Glu7Asp | |
| XM_011525129.1:c.216G>T | XP_011523431.1:p.Glu72Asp | |
| XM_011525130.1:c.216G>T | XP_011523432.1:p.Glu72Asp | |
| XM_011525131.1:c.216G>T | XP_011523433.1:p.Glu72Asp | |
| XM_005257593.5:c.21G>T | XP_005257650.1:p.Glu7Asp | |
| XM_011525129.2:c.216G>T | XP_011523431.1:p.Glu72Asp | |
| NM_000342.4:c.216G>T MANE Select | NP_000333.1:p.Glu72Asp |