Linked Data
ClinVar Variation Id:
52704
dbSNP Id:
rs80359144
gnomAD v4:
13-32379495-C-A
PubMed:
PMID:12601471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379495C>A , CM000675.2:g.32379495C>A | GRCh38 |
| NC_000013.10:g.32953632C>A , CM000675.1:g.32953632C>A | GRCh37 |
| NC_000013.9:g.31851632C>A | NCBI36 |
| NG_012772.3:g.69016C>A , LRG_293:g.69016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8933C>A | ENSP00000434898.2:p.Ser2978Ter | |
| ENST00000528762.2:c.*300C>A | ENSP00000433168.2:n.*300C>A | |
| ENST00000530893.7:c.8564C>A | ENSP00000499438.2:p.Ser2855Ter | |
| ENST00000665585.2:c.*495C>A | ENSP00000499570.2:n.*495C>A | |
| ENST00000666593.2:c.8933C>A | ENSP00000499256.2:p.Ser2978Ter | |
| ENST00000700202.2:c.8933C>A | ENSP00000514856.2:p.Ser2978Ter | |
| ENST00000700202.1:c.1400C>A | ENSP00000514856.1:p.Ser467Ter | |
| ENST00000700203.1:n.1060C>A | ||
| ENST00000380152.8:c.8933C>A MANE Select | ENSP00000369497.3:p.Ser2978Ter | |
| ENST00000544455.6:c.8933C>A | ENSP00000439902.1:p.Ser2978Ter | |
| ENST00000614259.2:c.8941C>A | ENSP00000506251.1:n.8941C>A | |
| ENST00000665585.1:c.1811C>A | ||
| ENST00000680887.1:c.8933C>A | ENSP00000505508.1:p.Ser2978Ter | |
| ENST00000380152.7:c.8933C>A | ENSP00000369497.3:p.Ser2978Ter | |
| ENST00000528762.1:c.495C>A | ENSP00000433168.1:n.495C>A | |
| ENST00000544455.5:c.8933C>A | ENSP00000439902.1:p.Ser2978Ter | |
| NM_000059.3:c.8933C>A , LRG_293t1:c.8933C>A | NP_000050.2:p.Ser2978Ter | |
| XM_011535203.1:c.8933C>A | XP_011533505.1:p.Ser2978Ter | |
| XM_011535204.1:c.8837C>A | XP_011533506.1:p.Ser2946Ter | |
| XM_011535205.1:c.8755-255C>A | XP_011533507.1:n.8755-255C>A | |
| NM_000059.4:c.8933C>A MANE Select | NP_000050.3:p.Ser2978Ter |