ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032888G>C , CM000677.2:g.77032888G>C | GRCh38 |
| NC_000015.9:g.77325229G>C , CM000677.1:g.77325229G>C | GRCh37 |
| NC_000015.8:g.75112284G>C | NCBI36 |
| NG_007526.1:g.42765G>C , LRG_172:g.42765G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.2031G>C | ||
| ENST00000697623.1:n.2284G>C | ||
| ENST00000558012.6:c.865G>C MANE Select | ENSP00000452746.1:p.Asp289His | |
| ENST00000379595.7:c.865G>C | ENSP00000368914.3:p.Asp289His | |
| ENST00000557995.1:n.529G>C | ||
| ENST00000558012.5:c.865G>C | ENSP00000452746.1:p.Asp289His | |
| ENST00000558870.1:c.78+494G>C | ||
| ENST00000559295.5:c.872+460G>C | ENSP00000452743.1:n.872+460G>C | |
| ENST00000559785.5:c.1094G>C | ENSP00000452986.1:p.Arg365Pro | |
| ENST00000560223.5:c.*967G>C | ENSP00000454118.1:n.*967G>C | |
| NM_003978.3:c.865G>C , LRG_172t1:c.865G>C | NP_003969.2:p.Asp289His | |
| XM_006720737.2:c.499G>C | XP_006720800.1:p.Asp167His | |
| XM_011522163.1:c.922G>C | XP_011520465.1:p.Asp308His | |
| XM_011522164.1:c.820G>C | XP_011520466.1:p.Asp274His | |
| XM_011522165.1:c.718G>C | XP_011520467.1:p.Asp240His | |
| XM_011522166.1:c.956G>C | XP_011520468.1:p.Arg319Pro | |
| XM_011522167.1:c.895+494G>C | XP_011520469.1:n.895+494G>C | |
| XM_011522168.1:c.922G>C | XP_011520470.1:p.Asp308His | |
| XM_011522169.1:c.798+1610G>C | XP_011520471.1:n.798+1610G>C | |
| XM_011522170.1:c.372-2620G>C | XP_011520472.1:n.372-2620G>C | |
| XM_011522171.1:c.312-2620G>C | XP_011520473.1:n.312-2620G>C | |
| XM_011522172.1:c.312-2620G>C | XP_011520474.1:n.312-2620G>C | |
| XM_011522173.1:c.312-2620G>C | XP_011520475.1:n.312-2620G>C | |
| XR_931936.1:n.1406G>C | ||
| XR_931937.1:n.1349G>C | ||
| XR_931938.1:n.1345+494G>C | ||
| XR_931939.1:n.1248+1610G>C | ||
| XR_931940.1:n.1070-2620G>C | ||
| NM_001321135.1:c.872+460G>C | NP_001308064.1:n.872+460G>C | |
| NM_001321136.1:c.838G>C | NP_001308065.1:p.Asp280His | |
| NM_001321137.1:c.1060G>C | NP_001308066.1:p.Asp354His | |
| NM_003978.4:c.865G>C | NP_003969.2:p.Asp289His | |
| NR_135552.1:n.1150+1610G>C | ||
| XM_006720737.3:c.499G>C | XP_006720800.1:p.Asp167His | |
| XM_011522163.2:c.922G>C | XP_011520465.1:p.Asp308His | |
| XM_011522165.2:c.718G>C | XP_011520467.1:p.Asp240His | |
| XM_011522166.2:c.956G>C | XP_011520468.1:p.Arg319Pro | |
| XM_011522167.2:c.895+494G>C | XP_011520469.1:n.895+494G>C | |
| XM_011522168.3:c.922G>C | XP_011520470.1:p.Asp308His | |
| XM_011522169.2:c.798+1610G>C | XP_011520471.1:n.798+1610G>C | |
| XR_931936.2:n.1404G>C | ||
| XR_931937.2:n.1347G>C | ||
| XR_931938.2:n.1343+494G>C | ||
| XR_931939.2:n.1246+1610G>C | ||
| NM_001321135.2:c.872+460G>C | NP_001308064.1:n.872+460G>C | |
| NM_001321136.2:c.838G>C | NP_001308065.1:p.Asp280His | |
| NM_003978.5:c.865G>C MANE Select | NP_003969.2:p.Asp289His | |
| NR_135552.2:n.1109+1610G>C |