Linked Data
ClinVar Variation Id:
2225389
ClinVar RCV Id:
RCV004084646
dbSNP Id:
rs759715270
gnomAD v3:
19-18388831-G-C
gnomAD v4:
19-18388831-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388831G>C , CM000681.2:g.18388831G>C | GRCh38 |
| NC_000019.9:g.18499641G>C , CM000681.1:g.18499641G>C | GRCh37 |
| NC_000019.8:g.18360641G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.823G>C | ENSP00000470531.3:p.Val275Leu | |
| ENST00000597765.2:c.823G>C | ENSP00000469819.2:p.Val275Leu | |
| ENST00000252809.3:c.823G>C MANE Select | ENSP00000252809.3:p.Val275Leu | |
| NM_004864.2:c.823G>C | NP_004855.2:p.Val275Leu | |
| NM_004864.3:c.823G>C | NP_004855.2:p.Val275Leu | |
| XM_024451789.1:c.823G>C | XP_024307557.1:p.Val275Leu | |
| NM_004864.4:c.823G>C MANE Select | NP_004855.2:p.Val275Leu |