Linked Data
ClinVar Variation Id:
211099
dbSNP Id:
rs371906040
ExAC:
5:89939808 A / G
gnomAD v2:
5-89939808-A-G
gnomAD v3:
5-90643991-A-G
gnomAD v4:
5-90643991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90643991A>G , CM000667.2:g.90643991A>G | GRCh38 |
| NC_000005.9:g.89939808A>G , CM000667.1:g.89939808A>G | GRCh37 |
| NC_000005.8:g.89975564A>G | NCBI36 |
| NG_007083.1:g.90192A>G | |
| NG_007083.2:g.119648A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.2734+8A>G MANE Select | ENSP00000384582.2:n.2734+8A>G | |
| ENST00000504142.2:n.1500+8A>G | ||
| ENST00000639676.1:n.332+8A>G | ||
| ENST00000640403.1:c.37+8A>G | ENSP00000492531.1:n.37+8A>G | |
| ENST00000405460.6:c.2734+8A>G | ENSP00000384582.2:n.2734+8A>G | |
| ENST00000504142.1:c.1499+8A>G | ||
| NM_032119.3:c.2734+8A>G | NP_115495.3:n.2734+8A>G | |
| NR_003149.1:n.2830+8A>G | ||
| XM_011543675.1:c.2734+8A>G | XP_011541977.1:n.2734+8A>G | |
| XM_011543676.1:c.2734+8A>G | XP_011541978.1:n.2734+8A>G | |
| XM_011543677.1:c.37+8A>G | XP_011541979.1:n.37+8A>G | |
| XM_011543678.1:c.2734+8A>G | XP_011541980.1:n.2734+8A>G | |
| XM_011543679.1:c.2734+8A>G | XP_011541981.1:n.2734+8A>G | |
| NM_032119.4:c.2734+8A>G MANE Select | NP_115495.3:n.2734+8A>G | |
| XM_017009963.2:c.2734+8A>G | XP_016865452.1:n.2734+8A>G | |
| XM_017009964.2:c.2734+8A>G | XP_016865453.1:n.2734+8A>G | |
| XM_017009965.1:c.2731+8A>G | XP_016865454.1:n.2731+8A>G | |
| XM_017009966.2:c.2734+8A>G | XP_016865455.1:n.2734+8A>G | |
| XM_017009967.1:c.2638+8A>G | XP_016865456.1:n.2638+8A>G | |
| XM_017009968.2:c.2734+8A>G | XP_016865457.1:n.2734+8A>G | |
| XM_017009969.2:c.2734+8A>G | XP_016865458.1:n.2734+8A>G | |
| XM_017009970.2:c.2734+8A>G | XP_016865459.1:n.2734+8A>G | |
| XM_017009971.2:c.2734+8A>G | XP_016865460.1:n.2734+8A>G | |
| XM_017009974.2:c.2734+8A>G | XP_016865463.1:n.2734+8A>G | |
| NR_003149.2:n.2833+8A>G |