Linked Data
dbSNP Id:
rs776293737
ExAC:
1:243589751 C / A
gnomAD v2:
1-243589751-C-A
gnomAD v4:
1-243426449-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243426449C>A , CM000663.2:g.243426449C>A | GRCh38 |
| NC_000001.10:g.243589751C>A , CM000663.1:g.243589751C>A | GRCh37 |
| NC_000001.9:g.241656374C>A | NCBI36 |
| NG_027811.1:g.175445C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1876C>A MANE Select | ENSP00000355499.3:p.Gln626Lys | |
| ENST00000366541.7:c.1876C>A | ENSP00000355499.3:p.Gln626Lys | |
| ENST00000435549.1:c.979C>A | ENSP00000410200.1:p.Gln327Lys | |
| ENST00000463042.1:n.83C>A | ||
| NM_006642.3:c.1876C>A | NP_006633.1:p.Gln626Lys | |
| XM_005273013.3:c.1747C>A | XP_005273070.1:p.Gln583Lys | |
| XM_005273018.1:c.1453C>A | XP_005273075.1:p.Gln485Lys | |
| XM_005273021.3:c.973C>A | XP_005273078.1:p.Gln325Lys | |
| XM_005273022.2:c.955C>A | XP_005273079.1:p.Gln319Lys | |
| XM_006711727.2:c.1906C>A | XP_006711790.1:p.Gln636Lys | |
| XM_006711728.2:c.1777C>A | XP_006711791.1:p.Gln593Lys | |
| XM_006711729.2:c.1717C>A | XP_006711792.1:p.Gln573Lys | |
| XM_011544021.1:c.2002C>A | XP_011542323.1:p.Gln668Lys | |
| XM_011544022.1:c.1972C>A | XP_011542324.1:p.Gln658Lys | |
| XM_011544023.1:c.2002C>A | XP_011542325.1:p.Gln668Lys | |
| XM_011544024.1:c.2002C>A | XP_011542326.1:p.Gln668Lys | |
| XM_011544025.1:c.1813C>A | XP_011542327.1:p.Gln605Lys | |
| XM_011544026.1:c.1765C>A | XP_011542328.1:p.Gln589Lys | |
| XM_011544027.1:c.1588C>A | XP_011542329.1:p.Gln530Lys | |
| XM_011544028.1:c.1540C>A | XP_011542330.1:p.Gln514Lys | |
| XM_011544030.1:c.931C>A | XP_011542332.1:p.Gln311Lys | |
| XR_949128.1:n.2026C>A | ||
| NM_001350246.1:c.973C>A | NP_001337175.1:p.Gln325Lys | |
| NM_001350247.1:c.973C>A | NP_001337176.1:p.Gln325Lys | |
| NM_001350248.1:c.1972C>A | NP_001337177.1:p.Gln658Lys | |
| NM_001350249.1:c.1582C>A | NP_001337178.1:p.Gln528Lys | |
| NM_001350251.1:c.973C>A | NP_001337180.1:p.Gln325Lys | |
| NM_006642.4:c.1876C>A | NP_006633.1:p.Gln626Lys | |
| XM_005273013.5:c.1747C>A | XP_005273070.1:p.Gln583Lys | |
| XM_005273018.2:c.1453C>A | XP_005273075.1:p.Gln485Lys | |
| XM_005273022.4:c.955C>A | XP_005273079.1:p.Gln319Lys | |
| XM_011544026.3:c.1765C>A | XP_011542328.1:p.Gln589Lys | |
| XM_011544028.3:c.1540C>A | XP_011542330.1:p.Gln514Lys | |
| XM_011544030.3:c.931C>A | XP_011542332.1:p.Gln311Lys | |
| XM_017000104.2:c.1747C>A | XP_016855593.1:p.Gln583Lys | |
| XM_017000105.2:c.1639C>A | XP_016855594.1:p.Gln547Lys | |
| XM_024452537.1:c.1678C>A | XP_024308305.1:p.Gln560Lys | |
| XM_024452539.1:c.1678C>A | XP_024308307.1:p.Gln560Lys | |
| XM_024452540.1:c.1678C>A | XP_024308308.1:p.Gln560Lys | |
| XM_024452547.1:c.1582C>A | XP_024308315.1:p.Gln528Lys | |
| XM_024452548.1:c.1678C>A | XP_024308316.1:p.Gln560Lys | |
| XM_024452549.1:c.1345C>A | XP_024308317.1:p.Gln449Lys | |
| XR_002958955.1:n.1918C>A | ||
| XR_002958956.1:n.1918C>A | ||
| XR_002958965.1:n.1809C>A | ||
| NM_006642.5:c.1876C>A MANE Select | NP_006633.1:p.Gln626Lys | |
| NM_001350246.2:c.973C>A | NP_001337175.1:p.Gln325Lys | |
| NM_001350247.2:c.973C>A | NP_001337176.1:p.Gln325Lys | |
| NM_001350248.2:c.1972C>A | NP_001337177.1:p.Gln658Lys | |
| NM_001350249.2:c.1582C>A | NP_001337178.1:p.Gln528Lys | |
| NM_001350251.2:c.973C>A | NP_001337180.1:p.Gln325Lys |