Linked Data
dbSNP Id:
rs1256319244
gnomAD v2:
20-31024183-C-T
gnomAD v3:
20-32436380-C-T
gnomAD v4:
20-32436380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436380C>T , CM000682.2:g.32436380C>T | GRCh38 |
| NC_000020.10:g.31024183C>T , CM000682.1:g.31024183C>T | GRCh37 |
| NC_000020.9:g.30487844C>T | NCBI36 |
| NG_027868.1:g.83037C>T , LRG_630:g.83037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3668C>T MANE Select | ENSP00000364839.4:p.Ser1223Phe | |
| ENST00000646985.1:c.3485C>T | ENSP00000495053.1:p.Ser1162Phe | |
| ENST00000647223.1:n.6021C>T | ||
| ENST00000651418.1:c.1869+1799C>T | ENSP00000499150.1:n.1869+1799C>T | |
| ENST00000306058.9:c.3653C>T | ENSP00000305119.5:p.Ser1218Phe | |
| ENST00000375687.8:c.3668C>T | ENSP00000364839.4:p.Ser1223Phe | |
| ENST00000613218.4:c.3668C>T | ENSP00000480487.1:p.Ser1223Phe | |
| ENST00000620121.4:c.3668C>T | ENSP00000481978.1:p.Ser1223Phe | |
| NM_015338.5:c.3668C>T , LRG_630t1:c.3668C>T | NP_056153.2:p.Ser1223Phe | |
| XM_006723727.2:c.3665C>T | XP_006723790.1:p.Ser1222Phe | |
| XM_006723728.2:c.3638C>T | XP_006723791.1:p.Ser1213Phe | |
| XM_006723730.2:c.3584C>T | XP_006723793.1:p.Ser1195Phe | |
| XM_006723732.2:c.3485C>T | XP_006723795.1:p.Ser1162Phe | |
| XM_006723733.1:c.2984C>T | XP_006723796.1:p.Ser995Phe | |
| XM_011528647.1:c.3932C>T | XP_011526949.1:p.Ser1311Phe | |
| XM_011528648.1:c.3929C>T | XP_011526950.1:p.Ser1310Phe | |
| XM_011528649.1:c.3848C>T | XP_011526951.1:p.Ser1283Phe | |
| XM_011528650.1:c.3779C>T | XP_011526952.1:p.Ser1260Phe | |
| XM_011528651.1:c.3647C>T | XP_011526953.1:p.Ser1216Phe | |
| XM_011528652.1:c.3584C>T | XP_011526954.1:p.Ser1195Phe | |
| NM_001363734.1:c.3485C>T | NP_001350663.1:p.Ser1162Phe | |
| XM_006723727.3:c.3665C>T | XP_006723790.1:p.Ser1222Phe | |
| XM_006723728.3:c.3638C>T | XP_006723791.1:p.Ser1213Phe | |
| XM_006723730.4:c.3584C>T | XP_006723793.1:p.Ser1195Phe | |
| XM_011528648.3:c.3929C>T | XP_011526950.1:p.Ser1310Phe | |
| XM_011528652.2:c.3584C>T | XP_011526954.1:p.Ser1195Phe | |
| XM_017027704.1:c.3584C>T | XP_016883193.1:p.Ser1195Phe | |
| XM_017027705.1:c.3584C>T | XP_016883194.1:p.Ser1195Phe | |
| XM_017027706.1:c.3515C>T | XP_016883195.1:p.Ser1172Phe | |
| NM_015338.6:c.3668C>T MANE Select | NP_056153.2:p.Ser1223Phe |