Linked Data
dbSNP Id:
rs747703081
ExAC:
2:32353517 A / G
gnomAD v2:
2-32353517-A-G
gnomAD v4:
2-32128448-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128448A>G , CM000664.2:g.32128448A>G | GRCh38 |
| NC_000002.11:g.32353517A>G , CM000664.1:g.32353517A>G | GRCh37 |
| NC_000002.10:g.32207021A>G | NCBI36 |
| NG_008730.1:g.69838A>G , LRG_714:g.69838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*874A>G | ENSP00000515816.1:n.*874A>G | |
| ENST00000315285.9:c.1214A>G MANE Select | ENSP00000320885.3:p.Asn405Ser | |
| ENST00000621856.2:c.1211A>G | ENSP00000482496.2:p.Asn404Ser | |
| ENST00000642281.1:c.983-8115A>G | ||
| ENST00000642455.1:c.1115A>G | ENSP00000493827.1:p.Asn372Ser | |
| ENST00000642751.1:c.988A>G | ||
| ENST00000642999.1:c.956A>G | ENSP00000496589.1:p.Asn319Ser | |
| ENST00000643327.1:c.373A>G | ||
| ENST00000643334.1:c.794A>G | ||
| ENST00000644408.1:c.1090A>G | ||
| ENST00000644954.1:c.860A>G | ENSP00000494312.1:p.Asn287Ser | |
| ENST00000645159.1:n.1951A>G | ||
| ENST00000645550.1:n.427A>G | ||
| ENST00000645671.1:c.664A>G | ||
| ENST00000645730.1:c.561A>G | ||
| ENST00000646082.1:c.860A>G | ||
| ENST00000646571.1:c.1118A>G | ENSP00000495015.1:p.Asn373Ser | |
| ENST00000647007.1:n.906A>G | ||
| ENST00000647133.1:c.714A>G | ||
| ENST00000315285.7:c.1214A>G | ENSP00000320885.3:p.Asn405Ser | |
| ENST00000345662.5:c.1118A>G | ENSP00000340817.1:p.Asn373Ser | |
| ENST00000615843.4:c.1214A>G | ENSP00000480893.1:p.Asn405Ser | |
| ENST00000621856.1:c.956A>G | ENSP00000482496.1:p.Asn319Ser | |
| NM_014946.3:c.1214A>G , LRG_714t1:c.1214A>G | NP_055761.2:p.Asn405Ser | |
| NM_199436.1:c.1118A>G | NP_955468.1:p.Asn373Ser | |
| XM_005264516.3:c.1211A>G | XP_005264573.1:p.Asn404Ser | |
| XM_011533067.1:c.1214A>G | XP_011531369.1:p.Asn405Ser | |
| NM_001363823.1:c.1211A>G | NP_001350752.1:p.Asn404Ser | |
| NM_001363875.1:c.1115A>G | NP_001350804.1:p.Asn372Ser | |
| XM_005264516.5:c.1211A>G | XP_005264573.1:p.Asn404Ser | |
| XM_011533067.2:c.1214A>G | XP_011531369.1:p.Asn405Ser | |
| XM_017004778.2:c.1118A>G | XP_016860267.1:p.Asn373Ser | |
| NM_001363823.2:c.1211A>G | NP_001350752.1:p.Asn404Ser | |
| NM_001363875.2:c.1115A>G | NP_001350804.1:p.Asn372Ser | |
| NM_001377959.1:c.1118A>G | NP_001364888.1:p.Asn373Ser | |
| NM_014946.4:c.1214A>G MANE Select | NP_055761.2:p.Asn405Ser | |
| NM_199436.2:c.1118A>G | NP_955468.1:p.Asn373Ser |