Linked Data
ClinVar Variation Id:
52696
dbSNP Id:
rs80359141
gnomAD v3:
13-32379455-G-C
gnomAD v4:
13-32379455-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379455G>C , CM000675.2:g.32379455G>C | GRCh38 |
| NC_000013.10:g.32953592G>C , CM000675.1:g.32953592G>C | GRCh37 |
| NC_000013.9:g.31851592G>C | NCBI36 |
| NG_012772.3:g.68976G>C , LRG_293:g.68976G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8893G>C | ENSP00000434898.2:p.Asp2965His | |
| ENST00000528762.2:c.*260G>C | ENSP00000433168.2:n.*260G>C | |
| ENST00000530893.7:c.8524G>C | ENSP00000499438.2:p.Asp2842His | |
| ENST00000665585.2:c.*455G>C | ENSP00000499570.2:n.*455G>C | |
| ENST00000666593.2:c.8893G>C | ENSP00000499256.2:p.Asp2965His | |
| ENST00000700202.2:c.8893G>C | ENSP00000514856.2:p.Asp2965His | |
| ENST00000700202.1:c.1360G>C | ENSP00000514856.1:p.Asp454His | |
| ENST00000700203.1:n.1020G>C | ||
| ENST00000380152.8:c.8893G>C MANE Select | ENSP00000369497.3:p.Asp2965His | |
| ENST00000544455.6:c.8893G>C | ENSP00000439902.1:p.Asp2965His | |
| ENST00000614259.2:c.8901G>C | ENSP00000506251.1:n.8901G>C | |
| ENST00000665585.1:c.1771G>C | ||
| ENST00000680887.1:c.8893G>C | ENSP00000505508.1:p.Asp2965His | |
| ENST00000380152.7:c.8893G>C | ENSP00000369497.3:p.Asp2965His | |
| ENST00000528762.1:c.455G>C | ENSP00000433168.1:n.455G>C | |
| ENST00000544455.5:c.8893G>C | ENSP00000439902.1:p.Asp2965His | |
| NM_000059.3:c.8893G>C , LRG_293t1:c.8893G>C | NP_000050.2:p.Asp2965His | |
| XM_011535203.1:c.8893G>C | XP_011533505.1:p.Asp2965His | |
| XM_011535204.1:c.8797G>C | XP_011533506.1:p.Asp2933His | |
| XM_011535205.1:c.8755-295G>C | XP_011533507.1:n.8755-295G>C | |
| NM_000059.4:c.8893G>C MANE Select | NP_000050.3:p.Asp2965His |