Linked Data
ClinVar Variation Id:
229884
dbSNP Id:
rs876658250
gnomAD v2:
17-29586129-A-G
gnomAD v4:
17-31259111-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31259111A>G , CM000679.2:g.31259111A>G | GRCh38 |
| NC_000017.10:g.29586129A>G , CM000679.1:g.29586129A>G | GRCh37 |
| NC_000017.9:g.26610255A>G | NCBI36 |
| NG_009018.1:g.169135A>G , LRG_214:g.169135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.200A>G | ENSP00000492721.2:p.Asn67Ser | |
| ENST00000696138.1:c.4394A>G | ENSP00000512431.1:p.Asn1465Ser | |
| ENST00000696140.1:n.518A>G | ||
| ENST00000696141.1:c.403A>G | ||
| ENST00000687863.1:n.1057A>G | ||
| ENST00000691014.1:c.4442A>G | ENSP00000510595.1:p.Asn1481Ser | |
| ENST00000691649.1:n.384A>G | ||
| ENST00000358273.9:c.4412A>G MANE Select | ENSP00000351015.4:p.Asn1471Ser | |
| ENST00000356175.7:c.4349A>G | ENSP00000348498.3:p.Asn1450Ser | |
| ENST00000358273.8:c.4412A>G | ENSP00000351015.4:p.Asn1471Ser | |
| ENST00000456735.6:c.3347A>G | ENSP00000389907.2:p.Asn1116Ser | |
| ENST00000466819.5:c.928A>G | ||
| ENST00000479614.1:c.865A>G | ||
| ENST00000493220.5:n.2885A>G | ||
| ENST00000579081.5:c.4451A>G | ENSP00000462408.1:p.Asn1484Ser | |
| NM_000267.3:c.4349A>G , LRG_214t1:c.4349A>G | NP_000258.1:p.Asn1450Ser | |
| NM_001042492.2:c.4412A>G , LRG_214t2:c.4412A>G | NP_001035957.1:p.Asn1471Ser | |
| XM_005257983.1:c.4412A>G | XP_005258040.1:p.Asn1471Ser | |
| XM_005257984.1:c.4349A>G | XP_005258041.1:p.Asn1450Ser | |
| XM_006721922.1:c.4442A>G | XP_006721985.1:p.Asn1481Ser | |
| XM_006721923.2:c.4403A>G | XP_006721986.1:p.Asn1468Ser | |
| XM_006721924.1:c.4442A>G | XP_006721987.1:p.Asn1481Ser | |
| XM_006721925.1:c.4379A>G | XP_006721988.1:p.Asn1460Ser | |
| XM_006721926.2:c.4442A>G | XP_006721989.1:p.Asn1481Ser | |
| XM_006721927.1:c.4442A>G | XP_006721990.1:p.Asn1481Ser | |
| XM_006721928.2:c.4442A>G | XP_006721991.1:p.Asn1481Ser | |
| XM_011524852.1:c.4439A>G | XP_011523154.1:p.Asn1480Ser | |
| XM_011524853.1:c.4403A>G | XP_011523155.1:p.Asn1468Ser | |
| XM_011524854.1:c.4403A>G | XP_011523156.1:p.Asn1468Ser | |
| XM_011524855.1:c.4403A>G | XP_011523157.1:p.Asn1468Ser | |
| XM_011524856.1:c.4403A>G | XP_011523158.1:p.Asn1468Ser | |
| XM_011524857.1:c.4442A>G | XP_011523159.1:p.Asn1481Ser | |
| NM_001042492.3:c.4412A>G MANE Select | NP_001035957.1:p.Asn1471Ser |