gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7676882 (EAS)
Genomes Max Group AF
0.75797177 (EAS)
Exomes Max Group AF
0.7668004 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243415810G>A , CM000663.2:g.243415810G>A | GRCh38 |
| NC_000001.10:g.243579112G>A , CM000663.1:g.243579112G>A | GRCh37 |
| NC_000001.9:g.241645735G>A | NCBI36 |
| NG_027811.1:g.164806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1725G>A MANE Select | ENSP00000355499.3:p.Glu575= | |
| ENST00000366541.7:c.1725G>A | ENSP00000355499.3:p.Glu575= | |
| ENST00000435549.1:c.957-10617G>A | ENSP00000410200.1:n.957-10617G>A | |
| ENST00000493334.1:n.692G>A | ||
| NM_006642.3:c.1725G>A | NP_006633.1:p.Glu575= | |
| XM_005273013.3:c.1596G>A | XP_005273070.1:p.Glu532= | |
| XM_005273018.1:c.1302G>A | XP_005273075.1:p.Glu434= | |
| XM_005273021.3:c.822G>A | XP_005273078.1:p.Glu274= | |
| XM_005273022.2:c.804G>A | XP_005273079.1:p.Glu268= | |
| XM_006711727.2:c.1755G>A | XP_006711790.1:p.Glu585= | |
| XM_006711728.2:c.1626G>A | XP_006711791.1:p.Glu542= | |
| XM_006711729.2:c.1566G>A | XP_006711792.1:p.Glu522= | |
| XM_011544021.1:c.1851G>A | XP_011542323.1:p.Glu617= | |
| XM_011544022.1:c.1821G>A | XP_011542324.1:p.Glu607= | |
| XM_011544023.1:c.1851G>A | XP_011542325.1:p.Glu617= | |
| XM_011544024.1:c.1851G>A | XP_011542326.1:p.Glu617= | |
| XM_011544025.1:c.1662G>A | XP_011542327.1:p.Glu554= | |
| XM_011544026.1:c.1743-10617G>A | XP_011542328.1:n.1743-10617G>A | |
| XM_011544027.1:c.1437G>A | XP_011542329.1:p.Glu479= | |
| XM_011544028.1:c.1518-10617G>A | XP_011542330.1:n.1518-10617G>A | |
| XM_011544030.1:c.780G>A | XP_011542332.1:p.Glu260= | |
| XR_949128.1:n.1875G>A | ||
| NM_001350246.1:c.822G>A | NP_001337175.1:p.Glu274= | |
| NM_001350247.1:c.822G>A | NP_001337176.1:p.Glu274= | |
| NM_001350248.1:c.1821G>A | NP_001337177.1:p.Glu607= | |
| NM_001350249.1:c.1431G>A | NP_001337178.1:p.Glu477= | |
| NM_001350251.1:c.822G>A | NP_001337180.1:p.Glu274= | |
| NM_006642.4:c.1725G>A | NP_006633.1:p.Glu575= | |
| XM_005273013.5:c.1596G>A | XP_005273070.1:p.Glu532= | |
| XM_005273018.2:c.1302G>A | XP_005273075.1:p.Glu434= | |
| XM_005273022.4:c.804G>A | XP_005273079.1:p.Glu268= | |
| XM_011544026.3:c.1743-10617G>A | XP_011542328.1:n.1743-10617G>A | |
| XM_011544028.3:c.1518-10617G>A | XP_011542330.1:n.1518-10617G>A | |
| XM_011544030.3:c.780G>A | XP_011542332.1:p.Glu260= | |
| XM_017000104.2:c.1596G>A | XP_016855593.1:p.Glu532= | |
| XM_017000105.2:c.1617-10617G>A | XP_016855594.1:n.1617-10617G>A | |
| XM_024452537.1:c.1527G>A | XP_024308305.1:p.Glu509= | |
| XM_024452539.1:c.1527G>A | XP_024308307.1:p.Glu509= | |
| XM_024452540.1:c.1527G>A | XP_024308308.1:p.Glu509= | |
| XM_024452547.1:c.1431G>A | XP_024308315.1:p.Glu477= | |
| XM_024452548.1:c.1527G>A | XP_024308316.1:p.Glu509= | |
| XM_024452549.1:c.1323-10617G>A | XP_024308317.1:n.1323-10617G>A | |
| XR_002958955.1:n.1767G>A | ||
| XR_002958956.1:n.1767G>A | ||
| XR_002958965.1:n.1767G>A | ||
| NM_006642.5:c.1725G>A MANE Select | NP_006633.1:p.Glu575= | |
| NM_001350246.2:c.822G>A | NP_001337175.1:p.Glu274= | |
| NM_001350247.2:c.822G>A | NP_001337176.1:p.Glu274= | |
| NM_001350248.2:c.1821G>A | NP_001337177.1:p.Glu607= | |
| NM_001350249.2:c.1431G>A | NP_001337178.1:p.Glu477= | |
| NM_001350251.2:c.822G>A | NP_001337180.1:p.Glu274= |