Linked Data
ClinVar Variation Id:
2576477
ClinVar RCV Id:
RCV003322536
MyVariant Identifiers:
chr13:g.32953954A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379817A>G , CM000675.2:g.32379817A>G | GRCh38 |
| NC_000013.10:g.32953954A>G , CM000675.1:g.32953954A>G | GRCh37 |
| NC_000013.9:g.31851954A>G | NCBI36 |
| NG_012772.3:g.69338A>G , LRG_293:g.69338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9021A>G | ENSP00000434898.2:p.Arg3007= | |
| ENST00000528762.2:c.*388A>G | ENSP00000433168.2:n.*388A>G | |
| ENST00000530893.7:c.8652A>G | ENSP00000499438.2:p.Arg2884= | |
| ENST00000665585.2:c.*583A>G | ENSP00000499570.2:n.*583A>G | |
| ENST00000666593.2:c.9021A>G | ENSP00000499256.2:p.Arg3007= | |
| ENST00000700202.2:c.8970A>G | ENSP00000514856.2:p.Arg2990= | |
| ENST00000700202.1:c.1437A>G | ENSP00000514856.1:p.Arg479= | |
| ENST00000700203.1:n.1148A>G | ||
| ENST00000380152.8:c.9021A>G MANE Select | ENSP00000369497.3:p.Arg3007= | |
| ENST00000544455.6:c.9021A>G | ENSP00000439902.1:p.Arg3007= | |
| ENST00000614259.2:c.9029A>G | ENSP00000506251.1:n.9029A>G | |
| ENST00000665585.1:c.1899A>G | ||
| ENST00000680887.1:c.9021A>G | ENSP00000505508.1:p.Arg3007= | |
| ENST00000380152.7:c.9021A>G | ENSP00000369497.3:p.Arg3007= | |
| ENST00000544455.5:c.9021A>G | ENSP00000439902.1:p.Arg3007= | |
| NM_000059.3:c.9021A>G , LRG_293t1:c.9021A>G | NP_000050.2:p.Arg3007= | |
| XM_011535203.1:c.9021A>G | XP_011533505.1:p.Arg3007= | |
| XM_011535204.1:c.8925A>G | XP_011533506.1:p.Arg2975= | |
| XM_011535205.1:c.*59A>G | XP_011533507.1:n.*59A>G | |
| NM_000059.4:c.9021A>G MANE Select | NP_000050.3:p.Arg3007= |