Linked Data
ClinVar Variation Id:
375917
ClinVar RCV Id:
RCV000432830
dbSNP Id:
rs1057519705
COSMIC:
COSM1273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727464A>G , CM000666.2:g.54727464A>G | GRCh38 |
| NC_000004.11:g.55593630A>G , CM000666.1:g.55593630A>G | GRCh37 |
| NC_000004.10:g.55288387A>G | NCBI36 |
| NG_007456.1:g.74470A>G , LRG_307:g.74470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1687A>G | ENSP00000390987.3:p.Asn563Asp | |
| ENST00000685269.1:n.1774A>G | ||
| ENST00000686011.1:c.1684A>G | ENSP00000509704.1:p.Asn562Asp | |
| ENST00000687109.1:c.1699A>G | ENSP00000509371.1:p.Asn567Asp | |
| ENST00000687208.1:n.2111A>G | ||
| ENST00000687246.1:c.1684A>G | ENSP00000509114.1:p.Asn562Asp | |
| ENST00000687265.1:n.1854A>G | ||
| ENST00000687295.1:c.1684A>G | ENSP00000509450.1:p.Asn562Asp | |
| ENST00000689832.1:c.1699A>G | ENSP00000509084.1:p.Asn567Asp | |
| ENST00000689994.1:c.1186A>G | ENSP00000509156.1:p.Asn396Asp | |
| ENST00000690543.1:c.1687A>G | ENSP00000508831.1:p.Asn563Asp | |
| ENST00000690917.1:n.1914A>G | ||
| ENST00000691361.1:n.606A>G | ||
| ENST00000692783.1:c.1696A>G | ENSP00000508733.1:p.Asn566Asp | |
| ENST00000692991.1:n.1793A>G | ||
| ENST00000288135.6:c.1696A>G MANE Select | ENSP00000288135.6:p.Asn566Asp | |
| ENST00000288135.5:c.1696A>G | ENSP00000288135.5:p.Asn566Asp | |
| ENST00000412167.6:c.1684A>G | ENSP00000390987.2:p.Asn562Asp | |
| NM_000222.2:c.1696A>G , LRG_307t1:c.1696A>G | NP_000213.1:p.Asn566Asp | |
| NM_001093772.1:c.1684A>G | NP_001087241.1:p.Asn562Asp | |
| XM_005265740.1:c.1699A>G | XP_005265797.1:p.Asn567Asp | |
| XM_005265741.1:c.1699A>G | XP_005265798.1:p.Asn567Asp | |
| XM_005265742.1:c.1687A>G | XP_005265799.1:p.Asn563Asp | |
| XM_005265742.3:c.1687A>G | XP_005265799.1:p.Asn563Asp | |
| XM_017008178.1:c.1696A>G | XP_016863667.1:p.Asn566Asp | |
| XM_017008179.1:c.1687A>G | XP_016863668.1:p.Asn563Asp | |
| XM_017008180.1:c.1684A>G | XP_016863669.1:p.Asn562Asp | |
| NM_000222.3:c.1696A>G MANE Select | NP_000213.1:p.Asn566Asp | |
| NM_001093772.2:c.1684A>G | NP_001087241.1:p.Asn562Asp | |
| NM_001385284.1:c.1699A>G | NP_001372213.1:p.Asn567Asp | |
| NM_001385285.1:c.1696A>G | NP_001372214.1:p.Asn566Asp | |
| NM_001385286.1:c.1684A>G | NP_001372215.1:p.Asn562Asp | |
| NM_001385288.1:c.1687A>G | NP_001372217.1:p.Asn563Asp | |
| NM_001385290.1:c.1699A>G | NP_001372219.1:p.Asn567Asp | |
| NM_001385292.1:c.1687A>G | NP_001372221.1:p.Asn563Asp |