Linked Data
ClinVar Variation Id:
904136
dbSNP Id:
rs1312477726
gnomAD v2:
5-90050879-A-G
gnomAD v3:
5-90755062-A-G
gnomAD v4:
5-90755062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90755062A>G , CM000667.2:g.90755062A>G | GRCh38 |
| NC_000005.9:g.90050879A>G , CM000667.1:g.90050879A>G | GRCh37 |
| NC_000005.8:g.90086635A>G | NCBI36 |
| NG_007083.1:g.201263A>G | |
| NG_007083.2:g.230719A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11457A>G MANE Select | ENSP00000384582.2:p.Gln3819= | |
| ENST00000425867.3:c.588A>G | ENSP00000392618.3:p.Gln196= | |
| ENST00000639431.1:c.265+78853A>G | ENSP00000491057.1:n.265+78853A>G | |
| ENST00000640374.1:n.4601A>G | ||
| ENST00000640464.1:n.1876A>G | ||
| ENST00000405460.6:c.11457A>G | ENSP00000384582.2:p.Gln3819= | |
| ENST00000509621.1:c.4154A>G | ||
| NM_032119.3:c.11457A>G | NP_115495.3:p.Gln3819= | |
| NR_003149.1:n.11470A>G | ||
| XM_011543675.1:c.11454A>G | XP_011541977.1:p.Gln3818= | |
| XM_011543676.1:c.11376A>G | XP_011541978.1:p.Gln3792= | |
| XM_011543677.1:c.8760A>G | XP_011541979.1:p.Gln2920= | |
| XM_011543678.1:c.11457A>G | XP_011541980.1:p.Gln3819= | |
| NM_032119.4:c.11457A>G MANE Select | NP_115495.3:p.Gln3819= | |
| XM_017009963.2:c.11478A>G | XP_016865452.1:p.Gln3826= | |
| XM_017009964.2:c.11475A>G | XP_016865453.1:p.Gln3825= | |
| XM_017009965.1:c.11475A>G | XP_016865454.1:p.Gln3825= | |
| XM_017009966.2:c.11397A>G | XP_016865455.1:p.Gln3799= | |
| XM_017009967.1:c.11382A>G | XP_016865456.1:p.Gln3794= | |
| XM_017009968.2:c.11478A>G | XP_016865457.1:p.Gln3826= | |
| XM_017009969.2:c.11478A>G | XP_016865458.1:p.Gln3826= | |
| XM_017009970.2:c.11478A>G | XP_016865459.1:p.Gln3826= | |
| XM_017009971.2:c.11478A>G | XP_016865460.1:p.Gln3826= | |
| XM_017009972.1:c.4596A>G | XP_016865461.1:p.Gln1532= | |
| XM_017009973.1:c.4575A>G | XP_016865462.1:p.Gln1525= | |
| NR_003149.2:n.11473A>G |