Linked Data
ClinVar Variation Id:
137292
dbSNP Id:
rs11243011
ExAC:
6:5431340 A / G
gnomAD v2:
6-5431340-A-G
gnomAD v3:
6-5431107-A-G
gnomAD v4:
6-5431107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5431107A>G , CM000668.2:g.5431107A>G | GRCh38 |
| NC_000006.11:g.5431340A>G , CM000668.1:g.5431340A>G | GRCh37 |
| NC_000006.10:g.5376339A>G | NCBI36 |
| NG_033003.1:g.174757A>G | |
| NG_033003.2:g.174757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274680.9:c.839A>G MANE Select | ENSP00000274680.4:p.Asn280Ser | |
| ENST00000648580.1:c.839A>G | ENSP00000497889.1:p.Asn280Ser | |
| ENST00000274680.8:c.839A>G | ENSP00000274680.3:p.Asn280Ser | |
| ENST00000324331.10:c.839A>G | ENSP00000316335.5:p.Asn280Ser | |
| ENST00000445533.1:c.227A>G | ENSP00000392525.1:p.Asn76Ser | |
| NM_006567.3:c.839A>G | NP_006558.1:p.Asn280Ser | |
| XM_005248811.1:c.839A>G | XP_005248868.1:p.Asn280Ser | |
| XM_005248812.2:c.839A>G | XP_005248869.1:p.Asn280Ser | |
| XM_006714966.1:c.839A>G | XP_006715029.1:p.Asn280Ser | |
| XM_011514247.1:c.839A>G | XP_011512549.1:p.Asn280Ser | |
| XM_011514248.1:c.839A>G | XP_011512550.1:p.Asn280Ser | |
| XM_011514249.1:c.839A>G | XP_011512551.1:p.Asn280Ser | |
| XM_011514250.1:c.839A>G | XP_011512552.1:p.Asn280Ser | |
| XM_011514251.1:c.839A>G | XP_011512553.1:p.Asn280Ser | |
| XR_926026.1:n.1170A>G | ||
| XR_926027.1:n.1170A>G | ||
| XR_926028.1:n.1170A>G | ||
| NM_001318872.1:c.839A>G | NP_001305801.1:p.Asn280Ser | |
| NM_006567.4:c.839A>G | NP_006558.1:p.Asn280Ser | |
| XM_005248812.3:c.839A>G | XP_005248869.1:p.Asn280Ser | |
| XM_006714966.3:c.839A>G | XP_006715029.1:p.Asn280Ser | |
| XM_011514247.3:c.839A>G | XP_011512549.1:p.Asn280Ser | |
| XM_011514248.3:c.839A>G | XP_011512550.1:p.Asn280Ser | |
| XM_011514249.2:c.839A>G | XP_011512551.1:p.Asn280Ser | |
| XM_011514251.3:c.839A>G | XP_011512553.1:p.Asn280Ser | |
| XM_017010186.1:c.839A>G | XP_016865675.1:p.Asn280Ser | |
| XM_017010187.1:c.839A>G | XP_016865676.1:p.Asn280Ser | |
| XR_926027.3:n.1147A>G | ||
| XR_926028.2:n.1147A>G | ||
| NM_001318872.2:c.839A>G | NP_001305801.1:p.Asn280Ser | |
| NM_001374875.1:c.839A>G | NP_001361804.1:p.Asn280Ser | |
| NM_001374876.1:c.839A>G | NP_001361805.1:p.Asn280Ser | |
| NM_001374877.1:c.839A>G | NP_001361806.1:p.Asn280Ser | |
| NM_001374878.1:c.839A>G | NP_001361807.1:p.Asn280Ser | |
| NM_001374879.1:c.839A>G | NP_001361808.1:p.Asn280Ser | |
| NM_001375257.1:c.839A>G | NP_001362186.1:p.Asn280Ser | |
| NM_001375258.1:c.772+26406A>G | NP_001362187.1:n.772+26406A>G | |
| NM_001375259.1:c.143A>G | NP_001362188.1:p.Asn48Ser | |
| NM_001375260.1:c.143A>G | NP_001362189.1:p.Asn48Ser | |
| NM_006567.5:c.839A>G MANE Select | NP_006558.1:p.Asn280Ser |