Linked Data
ClinVar Variation Id:
1765487
ClinVar RCV Id:
RCV002376410
dbSNP Id:
rs397507417
MyVariant Identifiers:
chr13:g.32953952A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379815A>C , CM000675.2:g.32379815A>C | GRCh38 |
| NC_000013.10:g.32953952A>C , CM000675.1:g.32953952A>C | GRCh37 |
| NC_000013.9:g.31851952A>C | NCBI36 |
| NG_012772.3:g.69336A>C , LRG_293:g.69336A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9019A>C | ENSP00000434898.2:p.Arg3007= | |
| ENST00000528762.2:c.*386A>C | ENSP00000433168.2:n.*386A>C | |
| ENST00000530893.7:c.8650A>C | ENSP00000499438.2:p.Arg2884= | |
| ENST00000665585.2:c.*581A>C | ENSP00000499570.2:n.*581A>C | |
| ENST00000666593.2:c.9019A>C | ENSP00000499256.2:p.Arg3007= | |
| ENST00000700202.2:c.8968A>C | ENSP00000514856.2:p.Arg2990= | |
| ENST00000700202.1:c.1435A>C | ENSP00000514856.1:p.Arg479= | |
| ENST00000700203.1:n.1146A>C | ||
| ENST00000380152.8:c.9019A>C MANE Select | ENSP00000369497.3:p.Arg3007= | |
| ENST00000544455.6:c.9019A>C | ENSP00000439902.1:p.Arg3007= | |
| ENST00000614259.2:c.9027A>C | ENSP00000506251.1:n.9027A>C | |
| ENST00000665585.1:c.1897A>C | ||
| ENST00000680887.1:c.9019A>C | ENSP00000505508.1:p.Arg3007= | |
| ENST00000380152.7:c.9019A>C | ENSP00000369497.3:p.Arg3007= | |
| ENST00000544455.5:c.9019A>C | ENSP00000439902.1:p.Arg3007= | |
| NM_000059.3:c.9019A>C , LRG_293t1:c.9019A>C | NP_000050.2:p.Arg3007= | |
| XM_011535203.1:c.9019A>C | XP_011533505.1:p.Arg3007= | |
| XM_011535204.1:c.8923A>C | XP_011533506.1:p.Arg2975= | |
| XM_011535205.1:c.*57A>C | XP_011533507.1:n.*57A>C | |
| NM_000059.4:c.9019A>C MANE Select | NP_000050.3:p.Arg3007= |