Linked Data
ClinVar Variation Id:
921382
dbSNP Id:
rs2073040588
MyVariant Identifiers:
chr13:g.32971079T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396942T>C , CM000675.2:g.32396942T>C | GRCh38 |
| NC_000013.10:g.32971079T>C , CM000675.1:g.32971079T>C | GRCh37 |
| NC_000013.9:g.31869079T>C | NCBI36 |
| NG_012772.3:g.86463T>C , LRG_293:g.86463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*69T>C | ENSP00000434898.2:n.*69T>C | |
| ENST00000528762.2:c.*913T>C | ENSP00000433168.2:n.*913T>C | |
| ENST00000530893.7:c.9177T>C | ENSP00000499438.2:p.His3059= | |
| ENST00000665585.2:c.*1108T>C | ENSP00000499570.2:n.*1108T>C | |
| ENST00000700202.2:c.9495T>C | ENSP00000514856.2:p.His3165= | |
| ENST00000700202.1:c.1962T>C | ENSP00000514856.1:p.His654= | |
| ENST00000700203.1:n.1673T>C | ||
| ENST00000380152.8:c.9546T>C MANE Select | ENSP00000369497.3:p.His3182= | |
| ENST00000544455.6:c.9546T>C | ENSP00000439902.1:p.His3182= | |
| ENST00000614259.2:c.9554T>C | ENSP00000506251.1:n.9554T>C | |
| ENST00000665585.1:c.2424T>C | ||
| ENST00000680887.1:c.9546T>C | ENSP00000505508.1:p.His3182= | |
| ENST00000380152.7:c.9546T>C | ENSP00000369497.3:p.His3182= | |
| ENST00000470094.1:c.629T>C | ||
| ENST00000533776.1:n.134T>C | ||
| ENST00000544455.5:c.9546T>C | ENSP00000439902.1:p.His3182= | |
| NM_000059.3:c.9546T>C , LRG_293t1:c.9546T>C | NP_000050.2:p.His3182= | |
| XM_011535203.1:c.9546T>C | XP_011533505.1:p.His3182= | |
| XM_011535204.1:c.9450T>C | XP_011533506.1:p.His3150= | |
| NM_000059.4:c.9546T>C MANE Select | NP_000050.3:p.His3182= |