Linked Data
ClinVar Variation Id:
2406260
ClinVar RCV Id:
RCV002754344
dbSNP Id:
rs781974113
ExAC:
3:51418626 G / A
gnomAD v2:
3-51418626-G-A
gnomAD v3:
3-51381195-G-A
gnomAD v4:
3-51381195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51381195G>A , CM000665.2:g.51381195G>A | GRCh38 |
| NC_000003.11:g.51418626G>A , CM000665.1:g.51418626G>A | GRCh37 |
| NC_000003.10:g.51393666G>A | NCBI36 |
| NG_012652.3:g.924G>A | |
| NG_028012.1:g.710955G>A | |
| NG_028012.2:g.710955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266037.10:c.5729G>A MANE Select | ENSP00000266037.8:p.Arg1910His | |
| ENST00000266037.9:c.5729G>A | ENSP00000266037.8:p.Arg1910His | |
| NM_004947.4:c.5729G>A | NP_004938.1:p.Arg1910His | |
| XM_005264914.2:c.5852G>A | XP_005264971.1:p.Arg1951His | |
| XM_005264915.2:c.5834G>A | XP_005264972.1:p.Arg1945His | |
| XM_005264916.2:c.5825G>A | XP_005264973.1:p.Arg1942His | |
| XM_005264917.2:c.5810G>A | XP_005264974.1:p.Arg1937His | |
| XM_005264918.2:c.5705G>A | XP_005264975.1:p.Arg1902His | |
| XM_006713008.2:c.5789G>A | XP_006713071.1:p.Arg1930His | |
| XM_006713009.2:c.5765G>A | XP_006713072.1:p.Arg1922His | |
| XM_006713010.2:c.*36G>A | XP_006713073.1:n.*36G>A | |
| XM_011533441.1:c.4817G>A | XP_011531743.1:p.Arg1606His | |
| XM_011533442.1:c.3602G>A | XP_011531744.1:p.Arg1201His | |
| XM_011533443.1:c.3164G>A | XP_011531745.1:p.Arg1055His | |
| XM_011533444.1:c.3164G>A | XP_011531746.1:p.Arg1055His | |
| XM_011533445.1:c.2990G>A | XP_011531747.1:p.Arg997His | |
| XM_005264914.3:c.5852G>A | XP_005264971.1:p.Arg1951His | |
| XM_005264915.3:c.5834G>A | XP_005264972.1:p.Arg1945His | |
| XM_005264916.4:c.5825G>A | XP_005264973.1:p.Arg1942His | |
| XM_005264917.3:c.5810G>A | XP_005264974.1:p.Arg1937His | |
| XM_005264918.4:c.5705G>A | XP_005264975.1:p.Arg1902His | |
| XM_006713008.3:c.5789G>A | XP_006713071.1:p.Arg1930His | |
| XM_006713009.3:c.5765G>A | XP_006713072.1:p.Arg1922His | |
| XM_006713010.3:c.*36G>A | XP_006713073.1:n.*36G>A | |
| XM_011533441.3:c.4817G>A | XP_011531743.1:p.Arg1606His | |
| XM_011533443.2:c.3164G>A | XP_011531745.1:p.Arg1055His | |
| XM_011533444.2:c.3164G>A | XP_011531746.1:p.Arg1055His | |
| XM_011533445.2:c.2990G>A | XP_011531747.1:p.Arg997His | |
| XM_017005825.2:c.5711G>A | XP_016861314.1:p.Arg1904His | |
| XM_017005827.2:c.5039G>A | XP_016861316.1:p.Arg1680His | |
| XM_017005828.1:c.2990G>A | XP_016861317.1:p.Arg997His | |
| NM_004947.5:c.5729G>A MANE Select | NP_004938.1:p.Arg1910His |