MyVariant.info:
GRCh38
chr3:g.179943530G>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179943530G>C , CM000665.2:g.179943530G>C | GRCh38 |
| NC_000003.11:g.179661318G>C , CM000665.1:g.179661318G>C | GRCh37 |
| NC_000003.10:g.181144012G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467460.6:c.93+28064C>G MANE Select | ENSP00000419975.1:n.93+28064C>G | |
| ENST00000263962.12:c.22-42795C>G | ENSP00000263962.8:n.22-42795C>G | |
| ENST00000463761.1:c.165+28064C>G | ENSP00000419406.1:n.165+28064C>G | |
| ENST00000464614.5:c.-37+28064C>G | ENSP00000417270.1:n.-37+28064C>G | |
| ENST00000465751.5:c.22-45284C>G | ENSP00000419348.1:n.22-45284C>G | |
| ENST00000467460.5:c.93+28064C>G | ENSP00000419975.1:n.93+28064C>G | |
| ENST00000468741.5:c.-379+28064C>G | ENSP00000418665.1:n.-379+28064C>G | |
| ENST00000469198.5:c.165+28064C>G | ENSP00000417438.1:n.165+28064C>G | |
| ENST00000472994.5:c.22-55746C>G | ENSP00000418054.1:n.22-55746C>G | |
| ENST00000474909.1:n.524+28064C>G | ||
| ENST00000476138.5:c.-37+28064C>G | ENSP00000420555.1:n.-37+28064C>G | |
| ENST00000485199.5:c.93+28064C>G | ENSP00000418440.1:n.93+28064C>G | |
| ENST00000487198.5:n.331+28064C>G | ||
| NM_001256750.1:c.22-42795C>G | NP_001243679.1:n.22-42795C>G | |
| NM_001256751.1:c.22-45284C>G | NP_001243680.1:n.22-45284C>G | |
| NM_001256752.1:c.93+28064C>G | NP_001243681.1:n.93+28064C>G | |
| NM_001256753.1:c.22-55746C>G | NP_001243682.1:n.22-55746C>G | |
| NM_001256754.1:c.-37+28064C>G | NP_001243683.1:n.-37+28064C>G | |
| NM_001256755.1:c.-37+28064C>G | NP_001243684.1:n.-37+28064C>G | |
| NM_001256756.1:c.-379+28064C>G | NP_001243685.1:n.-379+28064C>G | |
| NM_016559.2:c.93+28064C>G | NP_057643.1:n.93+28064C>G | |
| XM_011512882.1:c.258+28064C>G | XP_011511184.1:n.258+28064C>G | |
| XM_011512883.1:c.-445+28064C>G | XP_011511185.1:n.-445+28064C>G | |
| XM_011512884.1:c.165+28064C>G | XP_011511186.1:n.165+28064C>G | |
| XM_011512885.1:c.93+28064C>G | XP_011511187.1:n.93+28064C>G | |
| XM_011512886.1:c.258+28064C>G | XP_011511188.1:n.258+28064C>G | |
| XM_011512887.1:c.-103+28064C>G | XP_011511189.1:n.-103+28064C>G | |
| NM_001349386.1:c.258+28064C>G | NP_001336315.1:n.258+28064C>G | |
| NM_001349387.1:c.165+28064C>G | NP_001336316.1:n.165+28064C>G | |
| NM_001349388.1:c.165+28064C>G | NP_001336317.1:n.165+28064C>G | |
| NM_001349389.1:c.93+28064C>G | NP_001336318.1:n.93+28064C>G | |
| NM_001349390.1:c.258+28064C>G | NP_001336319.1:n.258+28064C>G | |
| NM_001349391.1:c.258+28064C>G | NP_001336320.1:n.258+28064C>G | |
| NM_001349392.1:c.165+28064C>G | NP_001336321.1:n.165+28064C>G | |
| NM_001349393.1:c.165+28064C>G | NP_001336322.1:n.165+28064C>G | |
| NM_001349394.1:c.165+28064C>G | NP_001336323.1:n.165+28064C>G | |
| NM_001349395.1:c.-37+28064C>G | NP_001336324.1:n.-37+28064C>G | |
| NM_001349396.1:c.22-42795C>G | NP_001336325.1:n.22-42795C>G | |
| NM_001349397.1:c.165+28064C>G | NP_001336326.1:n.165+28064C>G | |
| NM_001349398.1:c.22-45284C>G | NP_001336327.1:n.22-45284C>G | |
| NM_001349399.1:c.-371-45284C>G | NP_001336328.1:n.-371-45284C>G | |
| NM_001349401.1:c.-266-63407C>G | NP_001336330.1:n.-266-63407C>G | |
| NM_001349404.1:c.-71-68053C>G | NP_001336333.1:n.-71-68053C>G | |
| NM_001349406.1:c.-267+28064C>G | NP_001336335.1:n.-267+28064C>G | |
| NM_001349408.1:c.-372+28064C>G | NP_001336337.1:n.-372+28064C>G | |
| NM_001349409.1:c.-372+28064C>G | NP_001336338.1:n.-372+28064C>G | |
| NM_001349410.1:c.-184+28064C>G | NP_001336339.1:n.-184+28064C>G | |
| NR_146167.1:n.277+28064C>G | ||
| XM_017006607.1:c.-372+28064C>G | XP_016862096.1:n.-372+28064C>G | |
| XM_017006608.1:c.-372+28064C>G | XP_016862097.1:n.-372+28064C>G | |
| XM_024453590.1:c.258+28064C>G | XP_024309358.1:n.258+28064C>G | |
| XM_024453591.1:c.165+28064C>G | XP_024309359.1:n.165+28064C>G | |
| XM_024453592.1:c.258+28064C>G | XP_024309360.1:n.258+28064C>G | |
| XM_024453593.1:c.258+28064C>G | XP_024309361.1:n.258+28064C>G | |
| NM_016559.3:c.93+28064C>G MANE Select | NP_057643.1:n.93+28064C>G | |
| NM_001256750.2:c.22-42795C>G | NP_001243679.1:n.22-42795C>G | |
| NM_001256751.2:c.22-45284C>G | NP_001243680.1:n.22-45284C>G | |
| NM_001256752.2:c.93+28064C>G | NP_001243681.1:n.93+28064C>G | |
| NM_001256753.2:c.22-55746C>G | NP_001243682.1:n.22-55746C>G | |
| NM_001256754.2:c.-37+28064C>G | NP_001243683.1:n.-37+28064C>G | |
| NM_001256755.2:c.-37+28064C>G | NP_001243684.1:n.-37+28064C>G | |
| NM_001256756.2:c.-379+28064C>G | NP_001243685.1:n.-379+28064C>G | |
| NM_001349386.2:c.258+28064C>G | NP_001336315.1:n.258+28064C>G | |
| NM_001349387.2:c.165+28064C>G | NP_001336316.1:n.165+28064C>G | |
| NM_001349388.2:c.165+28064C>G | NP_001336317.1:n.165+28064C>G | |
| NM_001349389.2:c.93+28064C>G | NP_001336318.1:n.93+28064C>G | |
| NM_001349390.2:c.258+28064C>G | NP_001336319.1:n.258+28064C>G | |
| NM_001349391.2:c.258+28064C>G | NP_001336320.1:n.258+28064C>G | |
| NM_001349392.2:c.165+28064C>G | NP_001336321.1:n.165+28064C>G | |
| NM_001349393.2:c.165+28064C>G | NP_001336322.1:n.165+28064C>G | |
| NM_001349394.2:c.165+28064C>G | NP_001336323.1:n.165+28064C>G | |
| NM_001349395.2:c.-37+28064C>G | NP_001336324.1:n.-37+28064C>G | |
| NM_001349396.2:c.22-42795C>G | NP_001336325.1:n.22-42795C>G | |
| NM_001349397.2:c.165+28064C>G | NP_001336326.1:n.165+28064C>G | |
| NM_001349398.2:c.22-45284C>G | NP_001336327.1:n.22-45284C>G | |
| NM_001349399.2:c.-371-45284C>G | NP_001336328.1:n.-371-45284C>G | |
| NM_001349401.2:c.-266-63407C>G | NP_001336330.1:n.-266-63407C>G | |
| NM_001349404.2:c.-71-68053C>G | NP_001336333.1:n.-71-68053C>G | |
| NM_001349406.2:c.-267+28064C>G | NP_001336335.1:n.-267+28064C>G | |
| NM_001349408.2:c.-372+28064C>G | NP_001336337.1:n.-372+28064C>G | |
| NM_001349409.2:c.-372+28064C>G | NP_001336338.1:n.-372+28064C>G | |
| NM_001349410.2:c.-184+28064C>G | NP_001336339.1:n.-184+28064C>G | |
| NR_146167.2:n.282+28064C>G |