ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005939 (SAS)
Exomes Max Group AF
0.00005396 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54278399A>C , CM000666.2:g.54278399A>C | GRCh38 |
| NC_000004.11:g.55144566A>C , CM000666.1:g.55144566A>C | GRCh37 |
| NC_000004.10:g.54839323A>C | NCBI36 |
| NG_009250.1:g.54303A>C , LRG_309:g.54303A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.2040A>C MANE Select | ENSP00000257290.5:p.Gly680= | |
| ENST00000257290.9:c.2040A>C | ENSP00000257290.5:p.Gly680= | |
| ENST00000507166.5:c.1320A>C | ENSP00000423325.1:p.Gly440= | |
| ENST00000507536.1:n.466A>C | ||
| ENST00000509092.5:n.1858A>C | ||
| ENST00000509490.5:c.2040A>C | ENSP00000424218.1:p.Gly680= | |
| NM_006206.4:c.2040A>C , LRG_309t1:c.2040A>C | NP_006197.1:p.Gly680= | |
| XM_005265743.1:c.2040A>C | XP_005265800.1:p.Gly680= | |
| XM_006714039.2:c.2115A>C | XP_006714102.1:p.Gly705= | |
| XM_006714041.2:c.2115A>C | XP_006714104.1:p.Gly705= | |
| XM_011534385.1:c.2040A>C | XP_011532687.1:p.Gly680= | |
| XM_011534386.1:c.2040A>C | XP_011532688.1:p.Gly680= | |
| NM_001347827.1:c.2040A>C | NP_001334756.1:p.Gly680= | |
| NM_001347828.1:c.2115A>C | NP_001334757.1:p.Gly705= | |
| NM_001347829.1:c.2040A>C | NP_001334758.1:p.Gly680= | |
| NM_001347830.1:c.2079A>C | NP_001334759.1:p.Gly693= | |
| NM_006206.5:c.2040A>C | NP_006197.1:p.Gly680= | |
| XM_006714041.3:c.2115A>C | XP_006714104.1:p.Gly705= | |
| XM_017008281.1:c.2079A>C | XP_016863770.1:p.Gly693= | |
| NM_006206.6:c.2040A>C MANE Select | NP_006197.1:p.Gly680= | |
| NM_001347827.2:c.2040A>C | NP_001334756.1:p.Gly680= | |
| NM_001347828.2:c.2115A>C | NP_001334757.1:p.Gly705= | |
| NM_001347829.2:c.2040A>C | NP_001334758.1:p.Gly680= | |
| NM_001347830.2:c.2079A>C | NP_001334759.1:p.Gly693= |