Linked Data
ClinVar Variation Id:
212710
ClinVar RCV Id:
RCV000192344
dbSNP Id:
rs797046135
gnomAD v2:
17-26851543-C-T
gnomAD v3:
17-28524525-C-T
gnomAD v4:
17-28524525-C-T
COSMIC:
COSM560126
PubMed:
PMID:26352270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28524525C>T , CM000679.2:g.28524525C>T | GRCh38 |
| NC_000017.10:g.26851543C>T , CM000679.1:g.26851543C>T | GRCh37 |
| NC_000017.9:g.23875670C>T | NCBI36 |
| NG_007260.1:g.5585C>T , LRG_61:g.5585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577936.2:c.146C>T | ENSP00000462159.2:p.Ser49Leu | |
| ENST00000579795.6:c.146C>T MANE Select | ENSP00000464645.1:p.Ser49Leu | |
| ENST00000226247.2:c.146C>T | ENSP00000226247.2:p.Ser49Leu | |
| ENST00000481916.6:c.*1196-68416G>A | ENSP00000436369.2:n.*1196-68416G>A | |
| ENST00000577936.1:c.146C>T | ENSP00000462159.1:p.Ser49Leu | |
| ENST00000579795.5:c.146C>T | ENSP00000464645.1:p.Ser49Leu | |
| NM_003593.2:c.146C>T , LRG_61t1:c.146C>T | NP_003584.2:p.Ser49Leu | |
| XM_005258046.3:c.146C>T | XP_005258103.1:p.Ser49Leu | |
| XM_011525354.1:c.200C>T | XP_011523656.1:p.Ser67Leu | |
| XM_011525355.1:c.197C>T | XP_011523657.1:p.Ser66Leu | |
| XM_011525356.1:c.200C>T | XP_011523658.1:p.Ser67Leu | |
| XM_011525357.1:c.179C>T | XP_011523659.1:p.Ser60Leu | |
| XM_011525358.1:c.146C>T | XP_011523660.1:p.Ser49Leu | |
| XM_011525359.1:c.146C>T | XP_011523661.1:p.Ser49Leu | |
| XM_011525360.1:c.146C>T | XP_011523662.1:p.Ser49Leu | |
| XM_011525361.1:c.146C>T | XP_011523663.1:p.Ser49Leu | |
| XM_011525362.1:c.143C>T | XP_011523664.1:p.Ser48Leu | |
| XM_011525363.1:c.200C>T | XP_011523665.1:p.Ser67Leu | |
| XM_011525364.1:c.123+433C>T | XP_011523666.1:n.123+433C>T | |
| XM_011525365.1:c.200C>T | XP_011523667.1:p.Ser67Leu | |
| XM_011525366.1:c.46-2726C>T | XP_011523668.1:n.46-2726C>T | |
| XM_011525368.1:c.-51-2723C>T | XP_011523670.1:n.-51-2723C>T | |
| XM_011525368.2:c.-51-2723C>T | XP_011523670.1:n.-51-2723C>T | |
| XM_017025228.1:c.143C>T | XP_016880717.1:p.Ser48Leu | |
| XM_017025229.1:c.146C>T | XP_016880718.1:p.Ser49Leu | |
| XM_017025230.1:c.146C>T | XP_016880719.1:p.Ser49Leu | |
| XM_017025231.1:c.146C>T | XP_016880720.1:p.Ser49Leu | |
| NM_001369369.1:c.146C>T MANE Select | NP_001356298.1:p.Ser49Leu | |
| NM_003593.3:c.146C>T | NP_003584.2:p.Ser49Leu |