Linked Data
ClinVar Variation Id:
46396
dbSNP Id:
rs201586455
ExAC:
5:90002172 A / C
gnomAD v2:
5-90002172-A-C
gnomAD v3:
5-90706355-A-C
gnomAD v4:
5-90706355-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90706355A>C , CM000667.2:g.90706355A>C | GRCh38 |
| NC_000005.9:g.90002172A>C , CM000667.1:g.90002172A>C | GRCh37 |
| NC_000005.8:g.90037928A>C | NCBI36 |
| NG_007083.1:g.152556A>C | |
| NG_007083.2:g.182012A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8691A>C MANE Select | ENSP00000384582.2:p.Glu2897Asp | |
| ENST00000639431.1:c.265+30146A>C | ENSP00000491057.1:n.265+30146A>C | |
| ENST00000639473.1:n.4150A>C | ||
| ENST00000640012.1:c.2498A>C | ||
| ENST00000640374.1:n.1835A>C | ||
| ENST00000640403.1:c.5982A>C | ENSP00000492531.1:p.Glu1994Asp | |
| ENST00000640779.1:c.3420A>C | ||
| ENST00000405460.6:c.8691A>C | ENSP00000384582.2:p.Glu2897Asp | |
| ENST00000509621.1:c.1388A>C | ||
| NM_032119.3:c.8691A>C | NP_115495.3:p.Glu2897Asp | |
| NR_003149.1:n.8704A>C | ||
| XM_011543675.1:c.8688A>C | XP_011541977.1:p.Glu2896Asp | |
| XM_011543676.1:c.8610A>C | XP_011541978.1:p.Glu2870Asp | |
| XM_011543677.1:c.5994A>C | XP_011541979.1:p.Glu1998Asp | |
| XM_011543678.1:c.8691A>C | XP_011541980.1:p.Glu2897Asp | |
| XM_011543679.1:c.8691A>C | XP_011541981.1:p.Glu2897Asp | |
| NM_032119.4:c.8691A>C MANE Select | NP_115495.3:p.Glu2897Asp | |
| XM_017009963.2:c.8712A>C | XP_016865452.1:p.Glu2904Asp | |
| XM_017009964.2:c.8709A>C | XP_016865453.1:p.Glu2903Asp | |
| XM_017009965.1:c.8709A>C | XP_016865454.1:p.Glu2903Asp | |
| XM_017009966.2:c.8631A>C | XP_016865455.1:p.Glu2877Asp | |
| XM_017009967.1:c.8616A>C | XP_016865456.1:p.Glu2872Asp | |
| XM_017009968.2:c.8712A>C | XP_016865457.1:p.Glu2904Asp | |
| XM_017009969.2:c.8712A>C | XP_016865458.1:p.Glu2904Asp | |
| XM_017009970.2:c.8712A>C | XP_016865459.1:p.Glu2904Asp | |
| XM_017009971.2:c.8712A>C | XP_016865460.1:p.Glu2904Asp | |
| XM_017009972.1:c.1830A>C | XP_016865461.1:p.Glu610Asp | |
| XM_017009973.1:c.1809A>C | XP_016865462.1:p.Glu603Asp | |
| XM_017009974.2:c.8712A>C | XP_016865463.1:p.Glu2904Asp | |
| NR_003149.2:n.8707A>C |