Linked Data
ClinVar Variation Id:
847
dbSNP Id:
rs80356538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42777111dup , CM000677.2:g.42777111dup | GRCh38 |
| NC_000015.9:g.43069309dup , CM000677.1:g.43069309dup | GRCh37 |
| NC_000015.8:g.40856601dup | NCBI36 |
| NG_012664.1:g.148699dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267890.11:c.1329dup MANE Select | ENSP00000267890.6:p.Arg444ThrfsTer7 | |
| ENST00000267890.10:c.1329dup | ENSP00000267890.6:p.Arg444ThrfsTer7 | |
| ENST00000567274.5:c.1224dup | ENSP00000457489.1:p.Arg409ThrfsTer7 | |
| ENST00000567840.5:c.1329dup | ENSP00000455734.1:p.Arg444ThrfsTer7 | |
| ENST00000622375.4:c.2544dup | ENSP00000479984.1:p.Arg849ThrfsTer7 | |
| NM_173500.3:c.1329dup | NP_775771.3:p.Arg444ThrfsTer7 | |
| XM_005254171.3:c.1347dup | XP_005254228.1:p.Arg450ThrfsTer7 | |
| XM_005254173.3:c.1122dup | XP_005254230.1:p.Arg375ThrfsTer7 | |
| XM_006720402.2:c.1314dup | XP_006720465.1:p.Arg439ThrfsTer7 | |
| XM_006720403.2:c.1122dup | XP_006720466.1:p.Arg375ThrfsTer7 | |
| XM_011521267.1:c.1122dup | XP_011519569.1:p.Arg375ThrfsTer7 | |
| XM_011521268.1:c.1062dup | XP_011519570.1:p.Arg355ThrfsTer7 | |
| XM_011521269.1:c.1050dup | XP_011519571.1:p.Arg351ThrfsTer7 | |
| XM_005254171.5:c.1347dup | XP_005254228.1:p.Arg450ThrfsTer7 | |
| XM_005254173.5:c.1122dup | XP_005254230.1:p.Arg375ThrfsTer7 | |
| XM_006720402.4:c.1314dup | XP_006720465.1:p.Arg439ThrfsTer7 | |
| XM_006720403.4:c.1122dup | XP_006720466.1:p.Arg375ThrfsTer7 | |
| XM_017021950.2:c.1050dup | XP_016877439.1:p.Arg351ThrfsTer7 | |
| XM_024449849.1:c.1329dup | XP_024305617.1:p.Arg444ThrfsTer7 | |
| XM_024449850.1:c.1329dup | XP_024305618.1:p.Arg444ThrfsTer7 | |
| XM_024449851.1:c.1122dup | XP_024305619.1:p.Arg375ThrfsTer7 | |
| NM_173500.4:c.1329dup MANE Select | NP_775771.3:p.Arg444ThrfsTer7 |