Linked Data
ClinVar Variation Id:
2844862
ClinVar RCV Id:
RCV003719224
dbSNP Id:
rs746968588
ExAC:
5:90041456 A / G
gnomAD v2:
5-90041456-A-G
gnomAD v4:
5-90745639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745639A>G , CM000667.2:g.90745639A>G | GRCh38 |
| NC_000005.9:g.90041456A>G , CM000667.1:g.90041456A>G | GRCh37 |
| NC_000005.8:g.90077212A>G | NCBI36 |
| NG_007083.1:g.191840A>G | |
| NG_007083.2:g.221296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10818A>G MANE Select | ENSP00000384582.2:p.Ala3606= | |
| ENST00000639431.1:c.265+69430A>G | ENSP00000491057.1:n.265+69430A>G | |
| ENST00000640374.1:n.3962A>G | ||
| ENST00000640464.1:n.1237A>G | ||
| ENST00000405460.6:c.10818A>G | ENSP00000384582.2:p.Ala3606= | |
| ENST00000509621.1:c.3515A>G | ||
| NM_032119.3:c.10818A>G | NP_115495.3:p.Ala3606= | |
| NR_003149.1:n.10831A>G | ||
| XM_011543675.1:c.10815A>G | XP_011541977.1:p.Ala3605= | |
| XM_011543676.1:c.10737A>G | XP_011541978.1:p.Ala3579= | |
| XM_011543677.1:c.8121A>G | XP_011541979.1:p.Ala2707= | |
| XM_011543678.1:c.10818A>G | XP_011541980.1:p.Ala3606= | |
| XM_011543679.1:c.*40A>G | XP_011541981.1:n.*40A>G | |
| NM_032119.4:c.10818A>G MANE Select | NP_115495.3:p.Ala3606= | |
| XM_017009963.2:c.10839A>G | XP_016865452.1:p.Ala3613= | |
| XM_017009964.2:c.10836A>G | XP_016865453.1:p.Ala3612= | |
| XM_017009965.1:c.10836A>G | XP_016865454.1:p.Ala3612= | |
| XM_017009966.2:c.10758A>G | XP_016865455.1:p.Ala3586= | |
| XM_017009967.1:c.10743A>G | XP_016865456.1:p.Ala3581= | |
| XM_017009968.2:c.10839A>G | XP_016865457.1:p.Ala3613= | |
| XM_017009969.2:c.10839A>G | XP_016865458.1:p.Ala3613= | |
| XM_017009970.2:c.10839A>G | XP_016865459.1:p.Ala3613= | |
| XM_017009971.2:c.10839A>G | XP_016865460.1:p.Ala3613= | |
| XM_017009972.1:c.3957A>G | XP_016865461.1:p.Ala1319= | |
| XM_017009973.1:c.3936A>G | XP_016865462.1:p.Ala1312= | |
| XM_017009974.2:c.*40A>G | XP_016865463.1:n.*40A>G | |
| NR_003149.2:n.10834A>G |