MyVariant.info:
GRCh38
chr19:g.54636880C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54636880C>G , CM000681.2:g.54636880C>G | GRCh38 |
| NC_000019.8:g.59840143C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324602.12:c.*2C>G MANE Select | ENSP00000315997.7:n.*2C>G | |
| ENST00000324602.11:c.*2C>G | ENSP00000315997.7:n.*2C>G | |
| ENST00000396315.5:c.1961C>G | ENSP00000379608.1:n.1961C>G | |
| ENST00000396317.5:c.1907C>G | ENSP00000379610.1:n.1907C>G | |
| ENST00000396327.7:c.*2C>G | ENSP00000379618.3:n.*2C>G | |
| ENST00000396331.5:c.*2C>G | ENSP00000379622.1:n.*2C>G | |
| ENST00000396332.8:c.*2C>G | ENSP00000379623.4:n.*2C>G | |
| ENST00000421584.5:c.1879C>G | ENSP00000410165.1:n.1879C>G | |
| ENST00000427581.6:c.*2C>G | ENSP00000395004.2:n.*2C>G | |
| ENST00000462628.5:n.1739C>G | ||
| NM_001081637.2:c.*2C>G | NP_001075106.2:n.*2C>G | |
| NM_001081638.3:c.*2C>G | NP_001075107.2:n.*2C>G | |
| NM_001081639.3:c.*2C>G | NP_001075108.2:n.*2C>G | |
| NM_001278398.2:c.*2C>G | NP_001265327.2:n.*2C>G | |
| NM_006669.6:c.*2C>G | NP_006660.4:n.*2C>G | |
| NR_103518.2:n.2044C>G | ||
| XM_011526331.1:c.*2C>G | XP_011524633.1:n.*2C>G | |
| XM_011526332.1:c.*2C>G | XP_011524634.1:n.*2C>G | |
| XM_011526333.1:c.*2C>G | XP_011524635.1:n.*2C>G | |
| XM_011526334.1:c.*2C>G | XP_011524636.1:n.*2C>G | |
| XM_011526335.1:c.*2C>G | XP_011524637.1:n.*2C>G | |
| XM_011526336.1:c.*2C>G | XP_011524638.1:n.*2C>G | |
| XM_011526339.1:c.*2C>G | XP_011524641.1:n.*2C>G | |
| XM_011526331.2:c.*2C>G | XP_011524633.1:n.*2C>G | |
| XM_011526332.3:c.*2C>G | XP_011524634.1:n.*2C>G | |
| XM_011526335.2:c.*2C>G | XP_011524637.1:n.*2C>G | |
| XM_011526336.2:c.*2C>G | XP_011524638.1:n.*2C>G | |
| XM_017026182.2:c.*2C>G | XP_016881671.1:n.*2C>G | |
| XM_017026183.2:c.*2C>G | XP_016881672.1:n.*2C>G | |
| XM_017026184.2:c.*2C>G | XP_016881673.1:n.*2C>G | |
| XM_017026185.1:c.*2C>G | XP_016881674.1:n.*2C>G | |
| XM_017026186.1:c.*2C>G | XP_016881675.1:n.*2C>G | |
| XM_017026187.1:c.*2C>G | XP_016881676.1:n.*2C>G | |
| XM_017026188.1:c.*2C>G | XP_016881677.1:n.*2C>G | |
| XM_017026189.1:c.*2C>G | XP_016881678.1:n.*2C>G | |
| XM_017026190.1:c.*2C>G | XP_016881679.1:n.*2C>G | |
| XM_017026191.1:c.*2C>G | XP_016881680.1:n.*2C>G | |
| XR_001753590.2:n.2208C>G | ||
| XR_001753591.1:n.2213C>G | ||
| XR_002958244.1:n.2205C>G | ||
| NM_001081637.3:c.*2C>G MANE Select | NP_001075106.2:n.*2C>G | |
| NM_001081638.4:c.*2C>G | NP_001075107.2:n.*2C>G | |
| NM_001081639.4:c.*2C>G | NP_001075108.2:n.*2C>G | |
| NM_001388355.1:c.*2C>G | NP_001375284.1:n.*2C>G | |
| NM_001388356.1:c.*2C>G | NP_001375285.1:n.*2C>G | |
| NM_001388357.1:c.*2C>G | NP_001375286.1:n.*2C>G | |
| NM_001388358.1:c.*2C>G | NP_001375287.1:n.*2C>G | |
| NM_006669.7:c.*2C>G | NP_006660.4:n.*2C>G |