Linked Data
dbSNP Id:
rs5789
ExAC:
9:125143973 C / A
gnomAD v2:
9-125143973-C-A
gnomAD v3:
9-122381694-C-A
gnomAD v4:
9-122381694-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122381694C>A , CM000671.2:g.122381694C>A | GRCh38 |
| NC_000009.11:g.125143973C>A , CM000671.1:g.125143973C>A | GRCh37 |
| NC_000009.10:g.124183794C>A | NCBI36 |
| NG_032900.1:g.15745C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362012.7:c.709C>A MANE Select | ENSP00000354612.2:p.Leu237Met | |
| ENST00000373698.7:c.382C>A | ENSP00000362802.5:p.Leu128Met | |
| ENST00000426608.6:c.400C>A | ENSP00000411606.2:p.Leu134Met | |
| ENST00000540753.6:c.634C>A | ENSP00000437709.1:p.Leu212Met | |
| ENST00000619306.5:c.565C>A | ENSP00000483540.2:p.Leu189Met | |
| ENST00000643576.1:n.803C>A | ||
| ENST00000643810.1:c.382C>A | ENSP00000494717.1:p.Leu128Met | |
| ENST00000645132.1:n.519+3121C>A | ||
| ENST00000647067.1:c.*554C>A | ENSP00000495728.1:n.*554C>A | |
| ENST00000223423.8:c.709C>A | ENSP00000223423.4:p.Leu237Met | |
| ENST00000362012.6:c.709C>A | ENSP00000354612.2:p.Leu237Met | |
| ENST00000373698.6:c.382C>A | ENSP00000362802.5:p.Leu128Met | |
| ENST00000426608.5:c.391C>A | ENSP00000411606.1:p.Leu131Met | |
| ENST00000540753.5:c.634C>A | ENSP00000437709.1:p.Leu212Met | |
| ENST00000614910.4:c.565C>A | ENSP00000484800.1:p.Leu189Met | |
| ENST00000619306.4:c.802C>A | ENSP00000483540.1:p.Leu268Met | |
| NM_000962.3:c.709C>A | NP_000953.2:p.Leu237Met | |
| NM_001271164.1:c.565C>A | NP_001258093.1:p.Leu189Met | |
| NM_001271165.1:c.382C>A | NP_001258094.1:p.Leu128Met | |
| NM_001271166.1:c.382C>A | NP_001258095.1:p.Leu128Met | |
| NM_001271367.1:c.382C>A | NP_001258296.1:p.Leu128Met | |
| NM_001271368.1:c.634C>A | NP_001258297.1:p.Leu212Met | |
| NM_080591.2:c.709C>A | NP_542158.1:p.Leu237Met | |
| XM_005252105.2:c.634C>A | XP_005252162.1:p.Leu212Met | |
| XM_011518875.1:c.634C>A | XP_011517177.1:p.Leu212Met | |
| XM_011518876.1:c.382C>A | XP_011517178.1:p.Leu128Met | |
| XM_005252105.3:c.634C>A | XP_005252162.1:p.Leu212Met | |
| XM_011518875.2:c.634C>A | XP_011517177.1:p.Leu212Met | |
| XM_011518876.2:c.382C>A | XP_011517178.1:p.Leu128Met | |
| XM_024447614.1:c.382C>A | XP_024303382.1:p.Leu128Met | |
| XM_024447615.1:c.382C>A | XP_024303383.1:p.Leu128Met | |
| NM_000962.4:c.709C>A MANE Select | NP_000953.2:p.Leu237Met | |
| NM_001271164.2:c.565C>A | NP_001258093.1:p.Leu189Met | |
| NM_001271165.2:c.382C>A | NP_001258094.1:p.Leu128Met | |
| NM_001271166.2:c.382C>A | NP_001258095.1:p.Leu128Met | |
| NM_001271367.2:c.382C>A | NP_001258296.1:p.Leu128Met | |
| NM_001271368.2:c.634C>A | NP_001258297.1:p.Leu212Met | |
| NM_080591.3:c.709C>A | NP_542158.1:p.Leu237Met |