Linked Data
ClinVar Variation Id:
801131
ClinVar RCV Id:
RCV000985634
dbSNP Id:
rs1593202004
MyVariant Identifiers:
chr13:g.32972553A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398416A>C , CM000675.2:g.32398416A>C | GRCh38 |
| NC_000013.10:g.32972553A>C , CM000675.1:g.32972553A>C | GRCh37 |
| NC_000013.9:g.31870553A>C | NCBI36 |
| NG_012772.3:g.87937A>C , LRG_293:g.87937A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*426A>C | ENSP00000434898.2:n.*426A>C | |
| ENST00000528762.2:c.*1270A>C | ENSP00000433168.2:n.*1270A>C | |
| ENST00000530893.7:c.9534A>C | ENSP00000499438.2:p.Pro3178= | |
| ENST00000665585.2:c.*1465A>C | ENSP00000499570.2:n.*1465A>C | |
| ENST00000700202.2:c.9852A>C | ENSP00000514856.2:p.Pro3284= | |
| ENST00000700202.1:c.2319A>C | ENSP00000514856.1:p.Pro773= | |
| ENST00000700203.1:n.2030A>C | ||
| ENST00000380152.8:c.9903A>C MANE Select | ENSP00000369497.3:p.Pro3301= | |
| ENST00000544455.6:c.9903A>C | ENSP00000439902.1:p.Pro3301= | |
| ENST00000614259.2:c.9911A>C | ENSP00000506251.1:n.9911A>C | |
| ENST00000680887.1:c.9903A>C | ENSP00000505508.1:p.Pro3301= | |
| ENST00000380152.7:c.9903A>C | ENSP00000369497.3:p.Pro3301= | |
| ENST00000533776.1:n.491A>C | ||
| ENST00000544455.5:c.9903A>C | ENSP00000439902.1:p.Pro3301= | |
| NM_000059.3:c.9903A>C , LRG_293t1:c.9903A>C | NP_000050.2:p.Pro3301= | |
| XM_011535203.1:c.9903A>C | XP_011533505.1:p.Pro3301= | |
| XM_011535204.1:c.9807A>C | XP_011533506.1:p.Pro3269= | |
| NM_000059.4:c.9903A>C MANE Select | NP_000050.3:p.Pro3301= |