Linked Data
ClinVar Variation Id:
209597
ClinVar RCV Id:
RCV000191543
dbSNP Id:
rs7988901
gnomAD v2:
13-32889080-A-G
gnomAD v3:
13-32314943-A-G
gnomAD v4:
13-32314943-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32314943A>G , CM000675.2:g.32314943A>G | GRCh38 |
| NC_000013.10:g.32889080A>G , CM000675.1:g.32889080A>G | GRCh37 |
| NC_000013.9:g.31787080A>G | NCBI36 |
| NG_012772.3:g.4464A>G , LRG_293:g.4464A>G | |
| NG_017006.1:g.2012T>C | |
| NG_017006.2:g.5421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533490.7:c.-390+372T>C (ZAR1L) MANE Select | ENSP00000437289.2:n.-390+372T>C | |
| ENST00000533490.6:c.-390+372T>C (ZAR1L) | ENSP00000437289.2:n.-390+372T>C | |
| XM_011535203.1:c.-242A>G (BRCA2) | XP_011533505.1:n.-242A>G | |
| NM_001136571.2:c.-390+372T>C (ZAR1L) MANE Select | NP_001130043.1:n.-390+372T>C |