Linked Data
ClinVar Variation Id:
179072
dbSNP Id:
rs727504605
ExAC:
5:90087073 A / G
gnomAD v2:
5-90087073-A-G
gnomAD v3:
5-90791256-A-G
gnomAD v4:
5-90791256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791256A>G , CM000667.2:g.90791256A>G | GRCh38 |
| NC_000005.9:g.90087073A>G , CM000667.1:g.90087073A>G | GRCh37 |
| NC_000005.8:g.90122829A>G | NCBI36 |
| NG_007083.1:g.237457A>G | |
| NG_007083.2:g.266913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14427A>G MANE Select | ENSP00000384582.2:p.Glu4809= | |
| ENST00000425867.3:c.3381A>G | ENSP00000392618.3:p.Glu1127= | |
| ENST00000507314.2:c.102A>G | ENSP00000491299.1:p.Glu34= | |
| ENST00000638510.1:n.1694A>G | ||
| ENST00000638585.1:n.193A>G | ||
| ENST00000638975.1:c.1056A>G | ENSP00000492630.1:p.Glu352= | |
| ENST00000639431.1:c.265+115047A>G | ENSP00000491057.1:n.265+115047A>G | |
| ENST00000640407.1:c.837A>G | ENSP00000491425.1:p.Glu279= | |
| ENST00000405460.6:c.14427A>G | ENSP00000384582.2:p.Glu4809= | |
| ENST00000425867.2:c.1410A>G | ENSP00000392618.2:p.Glu470= | |
| ENST00000507314.1:n.102A>G | ||
| NM_032119.3:c.14427A>G | NP_115495.3:p.Glu4809= | |
| NR_003149.1:n.14440A>G | ||
| XM_011543675.1:c.14424A>G | XP_011541977.1:p.Glu4808= | |
| XM_011543676.1:c.14346A>G | XP_011541978.1:p.Glu4782= | |
| XM_011543677.1:c.11730A>G | XP_011541979.1:p.Glu3910= | |
| XM_011543678.1:c.14427A>G | XP_011541980.1:p.Glu4809= | |
| NM_032119.4:c.14427A>G MANE Select | NP_115495.3:p.Glu4809= | |
| XM_017009963.2:c.14448A>G | XP_016865452.1:p.Glu4816= | |
| XM_017009964.2:c.14445A>G | XP_016865453.1:p.Glu4815= | |
| XM_017009965.1:c.14445A>G | XP_016865454.1:p.Glu4815= | |
| XM_017009966.2:c.14367A>G | XP_016865455.1:p.Glu4789= | |
| XM_017009967.1:c.14352A>G | XP_016865456.1:p.Glu4784= | |
| XM_017009968.2:c.14448A>G | XP_016865457.1:p.Glu4816= | |
| XM_017009969.2:c.14448A>G | XP_016865458.1:p.Glu4816= | |
| XM_017009970.2:c.14448A>G | XP_016865459.1:p.Glu4816= | |
| XM_017009971.2:c.14448A>G | XP_016865460.1:p.Glu4816= | |
| XM_017009972.1:c.7566A>G | XP_016865461.1:p.Glu2522= | |
| XM_017009973.1:c.7545A>G | XP_016865462.1:p.Glu2515= | |
| NR_003149.2:n.14443A>G |