Linked Data
ClinVar Variation Id:
375927
ClinVar RCV Id:
RCV000427793
dbSNP Id:
rs1057519710
COSMIC:
COSM22379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733166G>C , CM000666.2:g.54733166G>C | GRCh38 |
| NC_000004.11:g.55599332G>C , CM000666.1:g.55599332G>C | GRCh37 |
| NC_000004.10:g.55294089G>C | NCBI36 |
| NG_007456.1:g.80172G>C , LRG_307:g.80172G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2446G>C | ENSP00000390987.3:p.Asp816His | |
| ENST00000685269.1:n.2536G>C | ||
| ENST00000686011.1:c.2443G>C | ENSP00000509704.1:p.Asp815His | |
| ENST00000687109.1:c.2461G>C | ENSP00000509371.1:p.Asp821His | |
| ENST00000687208.1:n.2870G>C | ||
| ENST00000687246.1:c.2349+1168G>C | ENSP00000509114.1:n.2349+1168G>C | |
| ENST00000687265.1:n.2616G>C | ||
| ENST00000687295.1:c.2446G>C | ENSP00000509450.1:p.Asp816His | |
| ENST00000688060.1:n.255G>C | ||
| ENST00000688704.1:n.1470G>C | ||
| ENST00000689832.1:c.2458G>C | ENSP00000509084.1:p.Asp820His | |
| ENST00000689994.1:c.1948G>C | ENSP00000509156.1:p.Asp650His | |
| ENST00000690543.1:c.2449G>C | ENSP00000508831.1:p.Asp817His | |
| ENST00000690917.1:n.2676G>C | ||
| ENST00000691361.1:n.1368G>C | ||
| ENST00000692783.1:c.2455G>C | ENSP00000508733.1:p.Asp819His | |
| ENST00000692991.1:n.2555G>C | ||
| ENST00000288135.6:c.2458G>C MANE Select | ENSP00000288135.6:p.Asp820His | |
| ENST00000288135.5:c.2458G>C | ENSP00000288135.5:p.Asp820His | |
| ENST00000412167.6:c.2446G>C | ENSP00000390987.2:p.Asp816His | |
| ENST00000512959.1:n.511G>C | ||
| NM_000222.2:c.2458G>C , LRG_307t1:c.2458G>C | NP_000213.1:p.Asp820His | |
| NM_001093772.1:c.2446G>C | NP_001087241.1:p.Asp816His | |
| XM_005265740.1:c.2461G>C | XP_005265797.1:p.Asp821His | |
| XM_005265741.1:c.2458G>C | XP_005265798.1:p.Asp820His | |
| XM_005265742.1:c.2449G>C | XP_005265799.1:p.Asp817His | |
| XM_005265742.3:c.2449G>C | XP_005265799.1:p.Asp817His | |
| XM_017008178.1:c.2455G>C | XP_016863667.1:p.Asp819His | |
| XM_017008179.1:c.2446G>C | XP_016863668.1:p.Asp816His | |
| XM_017008180.1:c.2443G>C | XP_016863669.1:p.Asp815His | |
| NM_000222.3:c.2458G>C MANE Select | NP_000213.1:p.Asp820His | |
| NM_001093772.2:c.2446G>C | NP_001087241.1:p.Asp816His | |
| NM_001385284.1:c.2461G>C | NP_001372213.1:p.Asp821His | |
| NM_001385285.1:c.2455G>C | NP_001372214.1:p.Asp819His | |
| NM_001385286.1:c.2443G>C | NP_001372215.1:p.Asp815His | |
| NM_001385288.1:c.2449G>C | NP_001372217.1:p.Asp817His | |
| NM_001385290.1:c.2458G>C | NP_001372219.1:p.Asp820His | |
| NM_001385292.1:c.2446G>C | NP_001372221.1:p.Asp816His |