Linked Data
ClinVar Variation Id:
758016
dbSNP Id:
rs730881576
MyVariant Identifiers:
chr13:g.32972403G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398266G>A , CM000675.2:g.32398266G>A | GRCh38 |
| NC_000013.10:g.32972403G>A , CM000675.1:g.32972403G>A | GRCh37 |
| NC_000013.9:g.31870403G>A | NCBI36 |
| NG_012772.3:g.87787G>A , LRG_293:g.87787G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*276G>A | ENSP00000434898.2:n.*276G>A | |
| ENST00000528762.2:c.*1120G>A | ENSP00000433168.2:n.*1120G>A | |
| ENST00000530893.7:c.9384G>A | ENSP00000499438.2:p.Lys3128= | |
| ENST00000665585.2:c.*1315G>A | ENSP00000499570.2:n.*1315G>A | |
| ENST00000700202.2:c.9702G>A | ENSP00000514856.2:p.Lys3234= | |
| ENST00000700202.1:c.2169G>A | ENSP00000514856.1:p.Lys723= | |
| ENST00000700203.1:n.1880G>A | ||
| ENST00000380152.8:c.9753G>A MANE Select | ENSP00000369497.3:p.Lys3251= | |
| ENST00000544455.6:c.9753G>A | ENSP00000439902.1:p.Lys3251= | |
| ENST00000614259.2:c.9761G>A | ENSP00000506251.1:n.9761G>A | |
| ENST00000680887.1:c.9753G>A | ENSP00000505508.1:p.Lys3251= | |
| ENST00000380152.7:c.9753G>A | ENSP00000369497.3:p.Lys3251= | |
| ENST00000470094.1:c.836G>A | ||
| ENST00000533776.1:n.341G>A | ||
| ENST00000544455.5:c.9753G>A | ENSP00000439902.1:p.Lys3251= | |
| NM_000059.3:c.9753G>A , LRG_293t1:c.9753G>A | NP_000050.2:p.Lys3251= | |
| XM_011535203.1:c.9753G>A | XP_011533505.1:p.Lys3251= | |
| XM_011535204.1:c.9657G>A | XP_011533506.1:p.Lys3219= | |
| NM_000059.4:c.9753G>A MANE Select | NP_000050.3:p.Lys3251= |