gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001296 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47984090A>G , CM000674.2:g.47984090A>G | GRCh38 |
| NC_000012.11:g.48377873A>G , CM000674.1:g.48377873A>G | GRCh37 |
| NC_000012.10:g.46664140A>G | NCBI36 |
| NG_008072.1:g.25413T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.1731T>C | ENSP00000338213.6:p.Pro577= | |
| ENST00000380518.8:c.1938T>C MANE Select | ENSP00000369889.3:p.Pro646= | |
| ENST00000337299.6:c.1731T>C | ENSP00000338213.6:p.Pro577= | |
| ENST00000380518.7:c.1938T>C | ENSP00000369889.3:p.Pro646= | |
| ENST00000493991.5:n.862T>C | ||
| NM_001844.4:c.1938T>C | NP_001835.3:p.Pro646= | |
| NM_033150.2:c.1731T>C | NP_149162.2:p.Pro577= | |
| XM_006719242.2:c.2082T>C | XP_006719305.2:p.Pro694= | |
| XM_011537928.1:c.2082T>C | XP_011536230.1:p.Pro694= | |
| XM_011537929.1:c.2082T>C | XP_011536231.1:p.Pro694= | |
| XM_011537930.1:c.2082T>C | XP_011536232.1:p.Pro694= | |
| XM_011537931.1:c.2082T>C | XP_011536233.1:p.Pro694= | |
| XM_011537932.1:c.2082T>C | XP_011536234.1:p.Pro694= | |
| XM_011537933.1:c.2082T>C | XP_011536235.1:p.Pro694= | |
| XM_011537934.1:c.2079T>C | XP_011536236.1:p.Pro693= | |
| XM_011537935.1:c.1026T>C | XP_011536237.1:p.Pro342= | |
| XM_017018828.1:c.2082T>C | XP_016874317.1:p.Pro694= | |
| XM_017018829.1:c.2079T>C | XP_016874318.1:p.Pro693= | |
| XM_017018830.1:c.1872T>C | XP_016874319.1:p.Pro624= | |
| XM_017018831.2:c.1392T>C | XP_016874320.1:p.Pro464= | |
| NM_001844.5:c.1938T>C MANE Select | NP_001835.3:p.Pro646= | |
| NM_033150.3:c.1731T>C | NP_149162.2:p.Pro577= |