Linked Data
ClinVar Variation Id:
30709
dbSNP Id:
rs147394623
ExAC:
1:26764719 A / G
gnomAD v2:
1-26764719-A-G
gnomAD v3:
1-26438228-A-G
gnomAD v4:
1-26438228-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26438228A>G , CM000663.2:g.26438228A>G | GRCh38 |
| NC_000001.10:g.26764719A>G , CM000663.1:g.26764719A>G | GRCh37 |
| NC_000001.9:g.26637306A>G | NCBI36 |
| NG_029786.1:g.10947A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528557.6:c.124A>G | ENSP00000515248.1:p.Lys42Glu | |
| ENST00000703198.1:c.124A>G | ENSP00000515227.1:p.Lys42Glu | |
| ENST00000703199.1:c.124A>G | ENSP00000515228.1:p.Lys42Glu | |
| ENST00000703200.1:c.124A>G | ENSP00000515229.1:p.Lys42Glu | |
| ENST00000703201.1:c.124A>G | ENSP00000515230.1:p.Lys42Glu | |
| ENST00000703202.1:c.124A>G | ENSP00000515231.1:p.Lys42Glu | |
| ENST00000703203.1:c.124A>G | ENSP00000515232.1:p.Lys42Glu | |
| ENST00000703262.1:c.124A>G | ENSP00000515247.1:p.Lys42Glu | |
| ENST00000703263.1:c.124A>G | ENSP00000515249.1:p.Lys42Glu | |
| ENST00000236342.12:c.124A>G MANE Select | ENSP00000236342.7:p.Lys42Glu | |
| ENST00000236342.11:c.124A>G | ENSP00000236342.7:p.Lys42Glu | |
| ENST00000360009.6:c.124A>G | ENSP00000353104.2:p.Lys42Glu | |
| ENST00000374185.7:c.124A>G | ENSP00000363300.3:p.Lys42Glu | |
| ENST00000374186.7:n.227A>G | ||
| ENST00000427245.6:c.124A>G | ENSP00000399177.2:p.Lys42Glu | |
| ENST00000430232.5:c.124A>G | ENSP00000397584.1:p.Lys42Glu | |
| ENST00000434391.6:c.124A>G | ENSP00000403529.2:p.Lys42Glu | |
| ENST00000436153.6:c.124A>G | ENSP00000405604.2:p.Lys42Glu | |
| ENST00000487944.5:n.211A>G | ||
| ENST00000525165.5:c.124A>G | ENSP00000434185.1:p.Lys42Glu | |
| ENST00000525326.5:c.124A>G | ENSP00000431407.1:p.Lys42Glu | |
| ENST00000525410.1:n.292A>G | ||
| ENST00000525546.5:c.124A>G | ENSP00000433976.1:p.Lys42Glu | |
| ENST00000525682.6:c.124A>G | ENSP00000434984.1:p.Lys42Glu | |
| ENST00000526219.5:c.124A>G | ENSP00000434219.1:p.Lys42Glu | |
| ENST00000526278.5:n.209A>G | ||
| ENST00000528557.5:n.301A>G | ||
| ENST00000529688.5:n.300A>G | ||
| ENST00000530781.5:c.124A>G | ENSP00000433491.1:p.Lys42Glu | |
| ENST00000531312.5:c.124A>G | ENSP00000436764.1:p.Lys42Glu | |
| ENST00000531955.5:n.344A>G | ||
| ENST00000533087.5:c.124A>G | ENSP00000436119.1:p.Lys42Glu | |
| NM_001243564.1:c.124A>G | NP_001230493.1:p.Lys42Glu | |
| NM_001243565.1:c.124A>G | NP_001230494.1:p.Lys42Glu | |
| NM_024887.3:c.124A>G | NP_079163.2:p.Lys42Glu | |
| NM_205861.2:c.124A>G | NP_995583.1:p.Lys42Glu | |
| XM_006710912.1:c.124A>G | XP_006710975.1:p.Lys42Glu | |
| XM_006710913.1:c.124A>G | XP_006710976.1:p.Lys42Glu | |
| XM_006710914.1:c.124A>G | XP_006710977.1:p.Lys42Glu | |
| XM_006710915.1:c.124A>G | XP_006710978.1:p.Lys42Glu | |
| XM_006710916.1:c.-179A>G | XP_006710979.1:n.-179A>G | |
| XM_006710917.1:c.-179A>G | XP_006710980.1:n.-179A>G | |
| XM_006710918.1:c.-179A>G | XP_006710981.1:n.-179A>G | |
| XM_006710919.1:c.-179A>G | XP_006710982.1:n.-179A>G | |
| XM_011542183.1:c.124A>G | XP_011540485.1:p.Lys42Glu | |
| XM_011542184.1:c.124A>G | XP_011540486.1:p.Lys42Glu | |
| XM_011542185.1:c.124A>G | XP_011540487.1:p.Lys42Glu | |
| XM_011542186.1:c.124A>G | XP_011540488.1:p.Lys42Glu | |
| NM_001319959.1:c.-179A>G | NP_001306888.1:n.-179A>G | |
| NM_205861.3:c.124A>G MANE Select | NP_995583.1:p.Lys42Glu | |
| NM_001243564.2:c.124A>G | NP_001230493.1:p.Lys42Glu | |
| NM_001243565.2:c.124A>G | NP_001230494.1:p.Lys42Glu | |
| NM_001319959.2:c.-179A>G | NP_001306888.1:n.-179A>G | |
| NM_024887.4:c.124A>G | NP_079163.2:p.Lys42Glu |