Linked Data
ClinVar Variation Id:
312330
dbSNP Id:
rs146451037
ExAC:
13:51517475 A / G
gnomAD v2:
13-51517475-A-G
gnomAD v3:
13-50943339-A-G
gnomAD v4:
13-50943339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50943339A>G , CM000675.2:g.50943339A>G | GRCh38 |
| NC_000013.10:g.51517475A>G , CM000675.1:g.51517475A>G | GRCh37 |
| NC_000013.9:g.50415476A>G | NCBI36 |
| NG_009055.1:g.38584A>G , LRG_279:g.38584A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336617.8:c.455A>G MANE Select | ENSP00000337623.2:p.Asn152Ser | |
| ENST00000422660.6:c.455A>G | ENSP00000389877.1:p.Asn152Ser | |
| ENST00000459681.3:n.138A>G | ||
| ENST00000495244.7:n.466A>G | ||
| ENST00000611510.5:c.365A>G | ENSP00000481236.3:p.Asn122Ser | |
| ENST00000616907.2:c.455A>G | ENSP00000482701.2:p.Asn152Ser | |
| ENST00000642207.1:c.194A>G | ||
| ENST00000642454.1:c.365A>G | ENSP00000494221.1:p.Asn122Ser | |
| ENST00000642721.1:c.455A>G | ENSP00000495650.1:p.Asn152Ser | |
| ENST00000642995.1:c.338A>G | ENSP00000493499.1:p.Asn113Ser | |
| ENST00000643159.1:c.365A>G | ENSP00000495587.1:p.Asn122Ser | |
| ENST00000643215.1:c.325A>G | ||
| ENST00000643405.1:c.103A>G | ||
| ENST00000643462.1:c.*270A>G | ENSP00000496130.1:n.*270A>G | |
| ENST00000643682.1:c.455A>G | ENSP00000493655.1:p.Asn152Ser | |
| ENST00000643774.1:c.419A>G | ENSP00000495482.1:p.Asn140Ser | |
| ENST00000644034.1:c.65-4648A>G | ENSP00000495456.1:n.65-4648A>G | |
| ENST00000644183.1:c.345A>G | ENSP00000495657.1:n.345A>G | |
| ENST00000644297.1:c.*313A>G | ENSP00000495519.1:n.*313A>G | |
| ENST00000644420.1:n.481A>G | ||
| ENST00000644425.1:c.406A>G | ||
| ENST00000644518.1:c.*322A>G | ENSP00000495793.1:n.*322A>G | |
| ENST00000645188.1:c.446A>G | ENSP00000496224.1:p.Asn149Ser | |
| ENST00000645333.1:n.387A>G | ||
| ENST00000645370.1:c.290A>G | ENSP00000494019.1:p.Asn97Ser | |
| ENST00000645618.1:c.365A>G | ENSP00000495429.1:p.Asn122Ser | |
| ENST00000645712.1:n.479A>G | ||
| ENST00000645955.1:c.455A>G | ENSP00000495755.1:p.Asn152Ser | |
| ENST00000645990.1:c.455A>G | ENSP00000496571.1:p.Asn152Ser | |
| ENST00000646092.1:c.419A>G | ENSP00000496293.1:p.Asn140Ser | |
| ENST00000646279.1:n.752A>G | ||
| ENST00000646339.1:c.117A>G | ENSP00000495773.1:n.117A>G | |
| ENST00000646709.1:c.365A>G | ENSP00000495278.1:p.Asn122Ser | |
| ENST00000646731.1:c.446A>G | ENSP00000493828.1:p.Asn149Ser | |
| ENST00000646960.1:c.455A>G | ENSP00000496481.1:p.Asn152Ser | |
| ENST00000646964.1:n.1094A>G | ||
| ENST00000647387.1:c.365A>G | ENSP00000495487.1:p.Asn122Ser | |
| ENST00000336617.7:c.455A>G | ENSP00000337623.2:p.Asn152Ser | |
| ENST00000422660.5:c.455A>G | ENSP00000389877.1:p.Asn152Ser | |
| ENST00000495244.6:n.466A>G | ||
| ENST00000611510.4:c.455A>G | ENSP00000481236.2:p.Asn152Ser | |
| ENST00000613449.4:n.2517A>G | ||
| ENST00000621641.1:n.43A>G | ||
| NM_001142279.2:c.455A>G , LRG_279t1:c.455A>G | NP_001135751.1:p.Asn152Ser | |
| NM_024570.3:c.455A>G , LRG_279t2:c.455A>G | NP_078846.2:p.Asn152Ser | |
| XM_005266524.2:c.455A>G | XP_005266581.1:p.Asn152Ser | |
| XM_005266525.2:c.455A>G | XP_005266582.1:p.Asn152Ser | |
| XM_006719867.2:c.437A>G | XP_006719930.1:p.Asn146Ser | |
| XM_011535229.1:c.455A>G | XP_011533531.1:p.Asn152Ser | |
| XM_011535230.1:c.455A>G | XP_011533532.1:p.Asn152Ser | |
| XM_011535231.1:c.455A>G | XP_011533533.1:p.Asn152Ser | |
| XM_011535232.1:c.293A>G | XP_011533534.1:p.Asn98Ser | |
| XM_011535233.1:c.47A>G | XP_011533535.1:p.Asn16Ser | |
| XM_011535234.1:c.455A>G | XP_011533536.1:p.Asn152Ser | |
| XM_006719867.4:c.437A>G | XP_006719930.1:p.Asn146Ser | |
| XM_011535230.2:c.455A>G | XP_011533532.1:p.Asn152Ser | |
| XM_011535231.2:c.455A>G | XP_011533533.1:p.Asn152Ser | |
| XM_011535233.2:c.47A>G | XP_011533535.1:p.Asn16Ser | |
| XM_017020747.1:c.455A>G | XP_016876236.1:p.Asn152Ser | |
| NM_024570.4:c.455A>G MANE Select | NP_078846.2:p.Asn152Ser |