Linked Data
ClinVar Variation Id:
296913
dbSNP Id:
rs759125934
ExAC:
1:243507564 G / A
gnomAD v3:
1-243344262-G-A
gnomAD v4:
1-243344262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243344262G>A , CM000663.2:g.243344262G>A | GRCh38 |
| NC_000001.10:g.243507564G>A , CM000663.1:g.243507564G>A | GRCh37 |
| NC_000001.9:g.241574187G>A | NCBI36 |
| NG_027811.1:g.93258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1404G>A MANE Select | ENSP00000355499.3:p.Lys468= | |
| ENST00000366541.7:c.1404G>A | ENSP00000355499.3:p.Lys468= | |
| ENST00000435549.1:c.744G>A | ENSP00000410200.1:p.Lys248= | |
| ENST00000493334.1:n.371G>A | ||
| NM_006642.3:c.1404G>A | NP_006633.1:p.Lys468= | |
| XM_005273013.3:c.1275G>A | XP_005273070.1:p.Lys425= | |
| XM_005273018.1:c.981G>A | XP_005273075.1:p.Lys327= | |
| XM_005273021.3:c.501G>A | XP_005273078.1:p.Lys167= | |
| XM_005273022.2:c.483G>A | XP_005273079.1:p.Lys161= | |
| XM_006711727.2:c.1434G>A | XP_006711790.1:p.Lys478= | |
| XM_006711728.2:c.1305G>A | XP_006711791.1:p.Lys435= | |
| XM_006711729.2:c.1245G>A | XP_006711792.1:p.Lys415= | |
| XM_011544021.1:c.1530G>A | XP_011542323.1:p.Lys510= | |
| XM_011544022.1:c.1500G>A | XP_011542324.1:p.Lys500= | |
| XM_011544023.1:c.1530G>A | XP_011542325.1:p.Lys510= | |
| XM_011544024.1:c.1530G>A | XP_011542326.1:p.Lys510= | |
| XM_011544025.1:c.1341G>A | XP_011542327.1:p.Lys447= | |
| XM_011544026.1:c.1530G>A | XP_011542328.1:p.Lys510= | |
| XM_011544027.1:c.1116G>A | XP_011542329.1:p.Lys372= | |
| XM_011544028.1:c.1305G>A | XP_011542330.1:p.Lys435= | |
| XM_011544030.1:c.459G>A | XP_011542332.1:p.Lys153= | |
| XR_949128.1:n.1554G>A | ||
| NM_001350246.1:c.501G>A | NP_001337175.1:p.Lys167= | |
| NM_001350247.1:c.501G>A | NP_001337176.1:p.Lys167= | |
| NM_001350248.1:c.1500G>A | NP_001337177.1:p.Lys500= | |
| NM_001350249.1:c.1110G>A | NP_001337178.1:p.Lys370= | |
| NM_001350251.1:c.501G>A | NP_001337180.1:p.Lys167= | |
| NM_006642.4:c.1404G>A | NP_006633.1:p.Lys468= | |
| XM_005273013.5:c.1275G>A | XP_005273070.1:p.Lys425= | |
| XM_005273018.2:c.981G>A | XP_005273075.1:p.Lys327= | |
| XM_005273022.4:c.483G>A | XP_005273079.1:p.Lys161= | |
| XM_011544026.3:c.1530G>A | XP_011542328.1:p.Lys510= | |
| XM_011544028.3:c.1305G>A | XP_011542330.1:p.Lys435= | |
| XM_011544030.3:c.459G>A | XP_011542332.1:p.Lys153= | |
| XM_017000104.2:c.1275G>A | XP_016855593.1:p.Lys425= | |
| XM_017000105.2:c.1404G>A | XP_016855594.1:p.Lys468= | |
| XM_024452537.1:c.1206G>A | XP_024308305.1:p.Lys402= | |
| XM_024452539.1:c.1206G>A | XP_024308307.1:p.Lys402= | |
| XM_024452540.1:c.1206G>A | XP_024308308.1:p.Lys402= | |
| XM_024452547.1:c.1110G>A | XP_024308315.1:p.Lys370= | |
| XM_024452548.1:c.1206G>A | XP_024308316.1:p.Lys402= | |
| XM_024452549.1:c.1110G>A | XP_024308317.1:p.Lys370= | |
| XR_002958955.1:n.1446G>A | ||
| XR_002958956.1:n.1446G>A | ||
| XR_002958965.1:n.1446G>A | ||
| NM_006642.5:c.1404G>A MANE Select | NP_006633.1:p.Lys468= | |
| NM_001350246.2:c.501G>A | NP_001337175.1:p.Lys167= | |
| NM_001350247.2:c.501G>A | NP_001337176.1:p.Lys167= | |
| NM_001350248.2:c.1500G>A | NP_001337177.1:p.Lys500= | |
| NM_001350249.2:c.1110G>A | NP_001337178.1:p.Lys370= | |
| NM_001350251.2:c.501G>A | NP_001337180.1:p.Lys167= |