Linked Data
ClinVar Variation Id:
374396
ClinVar RCV Id:
RCV000414848
dbSNP Id:
rs1057518672
gnomAD v4:
2-5694007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5694007G>A , CM000664.2:g.5694007G>A | GRCh38 |
| NC_000002.11:g.5834139G>A , CM000664.1:g.5834139G>A | GRCh37 |
| NC_000002.10:g.5751590G>A | NCBI36 |
| NG_050751.1:g.6341G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322002.5:c.1286G>A MANE Select | ENSP00000322568.3:p.Trp429Ter | |
| ENST00000322002.4:c.1286G>A | ENSP00000322568.3:p.Trp429Ter | |
| NM_003108.3:c.1286G>A | NP_003099.1:p.Trp429Ter | |
| NM_003108.4:c.1286G>A MANE Select | NP_003099.1:p.Trp429Ter |