Linked Data
dbSNP Id:
rs1060504607
gnomAD v4:
13-32398608-C-A
MyVariant Identifiers:
chr13:g.32972745C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398608C>A , CM000675.2:g.32398608C>A | GRCh38 |
| NC_000013.10:g.32972745C>A , CM000675.1:g.32972745C>A | GRCh37 |
| NC_000013.9:g.31870745C>A | NCBI36 |
| NG_012772.3:g.88129C>A , LRG_293:g.88129C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*618C>A | ENSP00000434898.2:n.*618C>A | |
| ENST00000528762.2:c.*1462C>A | ENSP00000433168.2:n.*1462C>A | |
| ENST00000530893.7:c.9726C>A | ENSP00000499438.2:p.Val3242= | |
| ENST00000665585.2:c.*1657C>A | ENSP00000499570.2:n.*1657C>A | |
| ENST00000700202.2:c.10044C>A | ENSP00000514856.2:p.Val3348= | |
| ENST00000700202.1:c.2511C>A | ENSP00000514856.1:p.Val837= | |
| ENST00000700203.1:n.2222C>A | ||
| ENST00000380152.8:c.10095C>A MANE Select | ENSP00000369497.3:p.Val3365= | |
| ENST00000544455.6:c.10095C>A | ENSP00000439902.1:p.Val3365= | |
| ENST00000614259.2:c.10103C>A | ENSP00000506251.1:n.10103C>A | |
| ENST00000680887.1:c.10095C>A | ENSP00000505508.1:p.Val3365= | |
| ENST00000380152.7:c.10095C>A | ENSP00000369497.3:p.Val3365= | |
| ENST00000544455.5:c.10095C>A | ENSP00000439902.1:p.Val3365= | |
| NM_000059.3:c.10095C>A , LRG_293t1:c.10095C>A | NP_000050.2:p.Val3365= | |
| XM_011535203.1:c.10095C>A | XP_011533505.1:p.Val3365= | |
| XM_011535204.1:c.9999C>A | XP_011533506.1:p.Val3333= | |
| NM_000059.4:c.10095C>A MANE Select | NP_000050.3:p.Val3365= |