Linked Data
ClinVar Variation Id:
100602
dbSNP Id:
rs137853918
ExAC:
5:90368384 A / G
gnomAD v2:
5-90368384-A-G
gnomAD v3:
5-91072567-A-G
gnomAD v4:
5-91072567-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91072567A>G , CM000667.2:g.91072567A>G | GRCh38 |
| NC_000005.9:g.90368384A>G , CM000667.1:g.90368384A>G | GRCh37 |
| NC_000005.8:g.90404140A>G | NCBI36 |
| NG_007083.1:g.518768A>G | |
| NG_007083.2:g.548224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18273A>G MANE Select | ENSP00000384582.2:p.Ala6091= | |
| ENST00000425867.3:c.7227A>G | ENSP00000392618.3:p.Ala2409= | |
| ENST00000638510.1:n.5540A>G | ||
| ENST00000638990.1:c.1485A>G | ||
| ENST00000639431.1:c.565A>G | ENSP00000491057.1:n.565A>G | |
| ENST00000639707.1:c.357A>G | ENSP00000492328.1:p.Ala119= | |
| ENST00000639821.1:c.357A>G | ENSP00000492216.1:p.Ala119= | |
| ENST00000640369.1:c.357A>G | ENSP00000491401.1:p.Ala119= | |
| ENST00000640407.1:c.4722A>G | ENSP00000491425.1:n.4722A>G | |
| ENST00000640815.1:c.357A>G | ENSP00000491767.1:p.Ala119= | |
| ENST00000405460.6:c.18273A>G | ENSP00000384582.2:p.Ala6091= | |
| ENST00000425867.2:c.5256A>G | ENSP00000392618.2:p.Ala1752= | |
| NM_032119.3:c.18273A>G | NP_115495.3:p.Ala6091= | |
| NR_003149.1:n.18286A>G | ||
| XM_011543675.1:c.18270A>G | XP_011541977.1:p.Ala6090= | |
| XM_011543676.1:c.18192A>G | XP_011541978.1:p.Ala6064= | |
| XM_011543677.1:c.15576A>G | XP_011541979.1:p.Ala5192= | |
| NM_032119.4:c.18273A>G MANE Select | NP_115495.3:p.Ala6091= | |
| XM_017009963.2:c.18294A>G | XP_016865452.1:p.Ala6098= | |
| XM_017009964.2:c.18291A>G | XP_016865453.1:p.Ala6097= | |
| XM_017009965.1:c.18291A>G | XP_016865454.1:p.Ala6097= | |
| XM_017009966.2:c.18213A>G | XP_016865455.1:p.Ala6071= | |
| XM_017009967.1:c.18198A>G | XP_016865456.1:p.Ala6066= | |
| XM_017009968.2:c.18114A>G | XP_016865457.1:p.Ala6038= | |
| XM_017009969.2:c.18294A>G | XP_016865458.1:p.Ala6098= | |
| XM_017009972.1:c.11412A>G | XP_016865461.1:p.Ala3804= | |
| XM_017009973.1:c.11391A>G | XP_016865462.1:p.Ala3797= | |
| NR_003149.2:n.18289A>G |