gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031306 (EAS)
Genomes Max Group AF
0.0002631 (EAS)
Exomes Max Group AF
0.00027261 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227056075A>G , CM000664.2:g.227056075A>G | GRCh38 |
| NC_000002.11:g.227920791A>G , CM000664.1:g.227920791A>G | GRCh37 |
| NC_000002.10:g.227629035A>G | NCBI36 |
| NG_011592.1:g.113485T>C , LRG_231:g.113485T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396625.5:c.2586T>C MANE Select | ENSP00000379866.3:p.Pro862= | |
| ENST00000396625.3:c.2586T>C | ENSP00000379866.3:p.Pro862= | |
| NM_000092.4:c.2586T>C , LRG_231t1:c.2586T>C | NP_000083.3:p.Pro862= | |
| XM_005246281.2:c.2586T>C | XP_005246338.1:p.Pro862= | |
| XM_005246282.2:c.2031T>C | XP_005246339.1:p.Pro677= | |
| XM_006712246.2:c.2586T>C | XP_006712309.1:p.Pro862= | |
| XM_006712249.2:c.2586T>C | XP_006712312.1:p.Pro862= | |
| XM_006712251.2:c.2586T>C | XP_006712314.1:p.Pro862= | |
| XM_006712252.2:c.2586T>C | XP_006712315.1:p.Pro862= | |
| XM_011510557.1:c.2586T>C | XP_011508859.1:p.Pro862= | |
| XM_011510558.1:c.2478T>C | XP_011508860.1:p.Pro826= | |
| XM_011510559.1:c.2586T>C | XP_011508861.1:p.Pro862= | |
| XM_011510560.1:c.2586T>C | XP_011508862.1:p.Pro862= | |
| XM_011510561.1:c.2586T>C | XP_011508863.1:p.Pro862= | |
| XM_011510562.1:c.2586T>C | XP_011508864.1:p.Pro862= | |
| XM_011510563.1:c.2586T>C | XP_011508865.1:p.Pro862= | |
| XM_011510564.1:c.2586T>C | XP_011508866.1:p.Pro862= | |
| XM_011510565.1:c.2586T>C | XP_011508867.1:p.Pro862= | |
| XM_011510566.1:c.2586T>C | XP_011508868.1:p.Pro862= | |
| XM_011510567.1:c.2586T>C | XP_011508869.1:p.Pro862= | |
| XM_011510568.1:c.2586T>C | XP_011508870.1:p.Pro862= | |
| XM_011510569.1:c.2586T>C | XP_011508871.1:p.Pro862= | |
| XM_011510570.1:c.2586T>C | XP_011508872.1:p.Pro862= | |
| XM_011510571.1:c.2586T>C | XP_011508873.1:p.Pro862= | |
| XM_011510572.1:c.912T>C | XP_011508874.1:p.Pro304= | |
| XR_922837.1:n.2896T>C | ||
| XR_922838.1:n.2896T>C | ||
| XR_922839.1:n.2896T>C | ||
| XR_922840.1:n.2896T>C | ||
| XM_005246281.3:c.2586T>C | XP_005246338.1:p.Pro862= | |
| XM_005246282.3:c.2031T>C | XP_005246339.1:p.Pro677= | |
| XM_006712246.3:c.2586T>C | XP_006712309.1:p.Pro862= | |
| XM_011510557.2:c.2586T>C | XP_011508859.1:p.Pro862= | |
| XM_011510558.2:c.2478T>C | XP_011508860.1:p.Pro826= | |
| XM_011510559.2:c.2586T>C | XP_011508861.1:p.Pro862= | |
| XM_011510560.2:c.2586T>C | XP_011508862.1:p.Pro862= | |
| XM_011510561.2:c.2586T>C | XP_011508863.1:p.Pro862= | |
| XM_011510562.2:c.2586T>C | XP_011508864.1:p.Pro862= | |
| XM_011510565.2:c.2586T>C | XP_011508867.1:p.Pro862= | |
| XM_011510566.2:c.2586T>C | XP_011508868.1:p.Pro862= | |
| XM_011510567.2:c.2586T>C | XP_011508869.1:p.Pro862= | |
| XM_011510568.2:c.2586T>C | XP_011508870.1:p.Pro862= | |
| XM_011510569.2:c.2586T>C | XP_011508871.1:p.Pro862= | |
| XM_011510570.2:c.2586T>C | XP_011508872.1:p.Pro862= | |
| XM_011510572.3:c.912T>C | XP_011508874.1:p.Pro304= | |
| XM_017003296.1:c.2586T>C | XP_016858785.1:p.Pro862= | |
| XM_017003297.1:c.2586T>C | XP_016858786.1:p.Pro862= | |
| XM_017003298.1:c.2586T>C | XP_016858787.1:p.Pro862= | |
| XM_017003299.1:c.2586T>C | XP_016858788.1:p.Pro862= | |
| XM_017003300.1:c.2586T>C | XP_016858789.1:p.Pro862= | |
| XR_001738602.1:n.2912T>C | ||
| XR_001738603.1:n.2912T>C | ||
| XR_001738604.1:n.2912T>C | ||
| XR_001738606.1:n.2912T>C | ||
| XR_001738607.1:n.2912T>C | ||
| XR_922837.2:n.2912T>C | ||
| NM_000092.5:c.2586T>C MANE Select | NP_000083.3:p.Pro862= |