MyVariant.info:
GRCh38
chr19:g.54636848C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04907822 (NFE)
Genomes Max Group AF
0.04874668 (NFE)
Exomes Max Group AF
0.04902326 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54636848C>A , CM000681.2:g.54636848C>A | GRCh38 |
| NC_000019.8:g.59840111C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324602.12:c.1929C>A MANE Select | ENSP00000315997.7:p.Pro643= | |
| ENST00000324602.11:c.1929C>A | ENSP00000315997.7:p.Pro643= | |
| ENST00000396315.5:c.1929C>A | ENSP00000379608.1:p.Pro643= | |
| ENST00000396317.5:c.1875C>A | ENSP00000379610.1:p.Pro625= | |
| ENST00000396327.7:c.1926C>A | ENSP00000379618.3:p.Pro642= | |
| ENST00000396331.5:c.1923C>A | ENSP00000379622.1:p.Pro641= | |
| ENST00000396332.8:c.1926C>A | ENSP00000379623.4:p.Pro642= | |
| ENST00000421584.5:c.1847C>A | ENSP00000410165.1:n.1847C>A | |
| ENST00000427581.6:c.2076C>A | ENSP00000395004.2:p.Pro692= | |
| ENST00000462628.5:n.1707C>A | ||
| NM_001081637.2:c.1929C>A | NP_001075106.2:p.Pro643= | |
| NM_001081638.3:c.1926C>A | NP_001075107.2:p.Pro642= | |
| NM_001081639.3:c.1926C>A | NP_001075108.2:p.Pro642= | |
| NM_001278398.2:c.1875C>A | NP_001265327.2:p.Pro625= | |
| NM_006669.6:c.1923C>A | NP_006660.4:p.Pro641= | |
| NR_103518.2:n.2012C>A | ||
| XM_011526331.1:c.1959C>A | XP_011524633.1:p.Pro653= | |
| XM_011526332.1:c.1956C>A | XP_011524634.1:p.Pro652= | |
| XM_011526333.1:c.1956C>A | XP_011524635.1:p.Pro652= | |
| XM_011526334.1:c.1980C>A | XP_011524636.1:p.Pro660= | |
| XM_011526335.1:c.1800C>A | XP_011524637.1:p.Pro600= | |
| XM_011526336.1:c.1767C>A | XP_011524638.1:p.Pro589= | |
| XM_011526339.1:c.1923C>A | XP_011524641.1:p.Pro641= | |
| XM_011526331.2:c.1959C>A | XP_011524633.1:p.Pro653= | |
| XM_011526332.3:c.1956C>A | XP_011524634.1:p.Pro652= | |
| XM_011526335.2:c.1800C>A | XP_011524637.1:p.Pro600= | |
| XM_011526336.2:c.1767C>A | XP_011524638.1:p.Pro589= | |
| XM_017026182.2:c.1956C>A | XP_016881671.1:p.Pro652= | |
| XM_017026183.2:c.1953C>A | XP_016881672.1:p.Pro651= | |
| XM_017026184.2:c.1953C>A | XP_016881673.1:p.Pro651= | |
| XM_017026185.1:c.1923C>A | XP_016881674.1:p.Pro641= | |
| XM_017026186.1:c.1980C>A | XP_016881675.1:p.Pro660= | |
| XM_017026187.1:c.1980C>A | XP_016881676.1:p.Pro660= | |
| XM_017026188.1:c.1977C>A | XP_016881677.1:p.Pro659= | |
| XM_017026189.1:c.1977C>A | XP_016881678.1:p.Pro659= | |
| XM_017026190.1:c.1974C>A | XP_016881679.1:p.Pro658= | |
| XM_017026191.1:c.1770C>A | XP_016881680.1:p.Pro590= | |
| XR_001753590.2:n.2176C>A | ||
| XR_001753591.1:n.2181C>A | ||
| XR_002958244.1:n.2173C>A | ||
| NM_001081637.3:c.1929C>A MANE Select | NP_001075106.2:p.Pro643= | |
| NM_001081638.4:c.1926C>A | NP_001075107.2:p.Pro642= | |
| NM_001081639.4:c.1926C>A | NP_001075108.2:p.Pro642= | |
| NM_001388355.1:c.1926C>A | NP_001375284.1:p.Pro642= | |
| NM_001388356.1:c.1926C>A | NP_001375285.1:p.Pro642= | |
| NM_001388357.1:c.1926C>A | NP_001375286.1:p.Pro642= | |
| NM_001388358.1:c.1929C>A | NP_001375287.1:p.Pro643= | |
| NM_006669.7:c.1923C>A | NP_006660.4:p.Pro641= |