Linked Data
ClinVar Variation Id:
375374
dbSNP Id:
rs1057519436
COSMIC:
COSM300279
PubMed:
PMID:29100085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47846550G>A , CM000665.2:g.47846550G>A | GRCh38 |
| NC_000003.11:g.47888040G>A , CM000665.1:g.47888040G>A | GRCh37 |
| NC_000003.10:g.47863044G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445061.6:c.1478G>A MANE Select | ENSP00000405620.1:p.Arg493His | |
| ENST00000348968.8:c.1394G>A | ENSP00000343442.4:p.Arg465His | |
| ENST00000395745.6:c.*1378G>A | ENSP00000379094.2:n.*1378G>A | |
| ENST00000445061.5:c.1478G>A | ENSP00000405620.1:p.Arg493His | |
| ENST00000446256.6:c.1478G>A | ENSP00000392601.3:p.Arg493His | |
| ENST00000457607.1:c.1562G>A | ENSP00000394682.1:p.Arg521His | |
| ENST00000619982.4:c.1361G>A | ENSP00000483160.1:p.Arg454His | |
| NM_014966.3:c.1361G>A | NP_055781.2:p.Arg454His | |
| NM_138615.2:c.1478G>A | NP_619520.1:p.Arg493His | |
| XM_006713033.1:c.1382G>A | XP_006713096.1:p.Arg461His | |
| XM_011533490.1:c.1691G>A | XP_011531792.1:p.Arg564His | |
| XM_011533491.1:c.1691G>A | XP_011531793.1:p.Arg564His | |
| XM_011533492.1:c.1691G>A | XP_011531794.1:p.Arg564His | |
| XM_011533493.1:c.1580G>A | XP_011531795.1:p.Arg527His | |
| XM_011533494.1:c.1478G>A | XP_011531796.1:p.Arg493His | |
| XM_011533495.1:c.1478G>A | XP_011531797.1:p.Arg493His | |
| XM_011533496.1:c.1394G>A | XP_011531798.1:p.Arg465His | |
| XM_011533497.1:c.1394G>A | XP_011531799.1:p.Arg465His | |
| XM_011533498.1:c.1394G>A | XP_011531800.1:p.Arg465His | |
| NM_001330990.1:c.1394G>A | NP_001317919.1:p.Arg465His | |
| XM_011533490.2:c.1691G>A | XP_011531792.1:p.Arg564His | |
| XM_011533494.3:c.1478G>A | XP_011531796.1:p.Arg493His | |
| XM_011533495.2:c.1478G>A | XP_011531797.1:p.Arg493His | |
| XM_011533497.2:c.1394G>A | XP_011531799.1:p.Arg465His | |
| XM_017005914.1:c.1610G>A | XP_016861403.1:p.Arg537His | |
| XM_017005915.1:c.1382G>A | XP_016861404.1:p.Arg461His | |
| XM_017005916.2:c.1367G>A | XP_016861405.1:p.Arg456His | |
| XM_017005917.1:c.1361G>A | XP_016861406.1:p.Arg454His | |
| XM_024453405.1:c.1580G>A | XP_024309173.1:p.Arg527His | |
| NM_138615.3:c.1478G>A MANE Select | NP_619520.1:p.Arg493His | |
| NM_001330990.2:c.1394G>A | NP_001317919.1:p.Arg465His | |
| NM_014966.4:c.1361G>A | NP_055781.2:p.Arg454His |