Linked Data
ClinVar Variation Id:
328204
dbSNP Id:
rs147615524
gnomAD v2:
19-1205889-C-T
gnomAD v3:
19-1205890-C-T
gnomAD v4:
19-1205890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1205890C>T , CM000681.2:g.1205890C>T | GRCh38 |
| NC_000019.9:g.1205889C>T , CM000681.1:g.1205889C>T | GRCh37 |
| NC_000019.8:g.1156889C>T | NCBI36 |
| NG_007460.2:g.21484C>T , LRG_319:g.21484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.-1024C>T | ENSP00000490268.2:n.-1024C>T | |
| ENST00000585748.3:c.-82-12527C>T | ENSP00000477641.2:n.-82-12527C>T | |
| ENST00000326873.12:c.-1024C>T MANE Select | ENSP00000324856.6:n.-1024C>T | |
| ENST00000585748.2:c.-82-12527C>T | ENSP00000477641.1:n.-82-12527C>T | |
| ENST00000586243.5:c.-875C>T | ENSP00000467240.2:n.-875C>T | |
| NM_000455.4:c.-1024C>T , LRG_319t1:c.-1024C>T | NP_000446.1:n.-1024C>T | |
| NM_000455.5:c.-1024C>T MANE Select | NP_000446.1:n.-1024C>T |