Linked Data
ClinVar Variation Id:
388512
ClinVar RCV Id:
RCV000421207
dbSNP Id:
rs781452016
gnomAD v4:
13-32379775-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379775A>T , CM000675.2:g.32379775A>T | GRCh38 |
| NC_000013.10:g.32953912A>T , CM000675.1:g.32953912A>T | GRCh37 |
| NC_000013.9:g.31851912A>T | NCBI36 |
| NG_012772.3:g.69296A>T , LRG_293:g.69296A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8979A>T | ENSP00000434898.2:p.Ser2993= | |
| ENST00000528762.2:c.*346A>T | ENSP00000433168.2:n.*346A>T | |
| ENST00000530893.7:c.8610A>T | ENSP00000499438.2:p.Ser2870= | |
| ENST00000665585.2:c.*541A>T | ENSP00000499570.2:n.*541A>T | |
| ENST00000666593.2:c.8979A>T | ENSP00000499256.2:p.Ser2993= | |
| ENST00000700202.2:c.8954-26A>T | ENSP00000514856.2:n.8954-26A>T | |
| ENST00000700202.1:c.1421-26A>T | ENSP00000514856.1:n.1421-26A>T | |
| ENST00000700203.1:n.1106A>T | ||
| ENST00000380152.8:c.8979A>T MANE Select | ENSP00000369497.3:p.Ser2993= | |
| ENST00000544455.6:c.8979A>T | ENSP00000439902.1:p.Ser2993= | |
| ENST00000614259.2:c.8987A>T | ENSP00000506251.1:n.8987A>T | |
| ENST00000665585.1:c.1857A>T | ||
| ENST00000680887.1:c.8979A>T | ENSP00000505508.1:p.Ser2993= | |
| ENST00000380152.7:c.8979A>T | ENSP00000369497.3:p.Ser2993= | |
| ENST00000544455.5:c.8979A>T | ENSP00000439902.1:p.Ser2993= | |
| NM_000059.3:c.8979A>T , LRG_293t1:c.8979A>T | NP_000050.2:p.Ser2993= | |
| XM_011535203.1:c.8979A>T | XP_011533505.1:p.Ser2993= | |
| XM_011535204.1:c.8883A>T | XP_011533506.1:p.Ser2961= | |
| XM_011535205.1:c.*17A>T | XP_011533507.1:n.*17A>T | |
| NM_000059.4:c.8979A>T MANE Select | NP_000050.3:p.Ser2993= |