Linked Data
ClinVar Variation Id:
2862061
ClinVar RCV Id:
RCV003704621
dbSNP Id:
rs575269452
ExAC:
5:90041495 A / C
gnomAD v2:
5-90041495-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745678A>C , CM000667.2:g.90745678A>C | GRCh38 |
| NC_000005.9:g.90041495A>C , CM000667.1:g.90041495A>C | GRCh37 |
| NC_000005.8:g.90077251A>C | NCBI36 |
| NG_007083.1:g.191879A>C | |
| NG_007083.2:g.221335A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10857A>C MANE Select | ENSP00000384582.2:p.Glu3619Asp | |
| ENST00000639431.1:c.265+69469A>C | ENSP00000491057.1:n.265+69469A>C | |
| ENST00000640374.1:n.4001A>C | ||
| ENST00000640464.1:n.1276A>C | ||
| ENST00000405460.6:c.10857A>C | ENSP00000384582.2:p.Glu3619Asp | |
| ENST00000509621.1:c.3554A>C | ||
| NM_032119.3:c.10857A>C | NP_115495.3:p.Glu3619Asp | |
| NR_003149.1:n.10870A>C | ||
| XM_011543675.1:c.10854A>C | XP_011541977.1:p.Glu3618Asp | |
| XM_011543676.1:c.10776A>C | XP_011541978.1:p.Glu3592Asp | |
| XM_011543677.1:c.8160A>C | XP_011541979.1:p.Glu2720Asp | |
| XM_011543678.1:c.10857A>C | XP_011541980.1:p.Glu3619Asp | |
| XM_011543679.1:c.*79A>C | XP_011541981.1:n.*79A>C | |
| NM_032119.4:c.10857A>C MANE Select | NP_115495.3:p.Glu3619Asp | |
| XM_017009963.2:c.10878A>C | XP_016865452.1:p.Glu3626Asp | |
| XM_017009964.2:c.10875A>C | XP_016865453.1:p.Glu3625Asp | |
| XM_017009965.1:c.10875A>C | XP_016865454.1:p.Glu3625Asp | |
| XM_017009966.2:c.10797A>C | XP_016865455.1:p.Glu3599Asp | |
| XM_017009967.1:c.10782A>C | XP_016865456.1:p.Glu3594Asp | |
| XM_017009968.2:c.10878A>C | XP_016865457.1:p.Glu3626Asp | |
| XM_017009969.2:c.10878A>C | XP_016865458.1:p.Glu3626Asp | |
| XM_017009970.2:c.10878A>C | XP_016865459.1:p.Glu3626Asp | |
| XM_017009971.2:c.10878A>C | XP_016865460.1:p.Glu3626Asp | |
| XM_017009972.1:c.3996A>C | XP_016865461.1:p.Glu1332Asp | |
| XM_017009973.1:c.3975A>C | XP_016865462.1:p.Glu1325Asp | |
| XM_017009974.2:c.*79A>C | XP_016865463.1:n.*79A>C | |
| NR_003149.2:n.10873A>C |