Linked Data
ClinVar Variation Id:
447765
ClinVar RCV Id:
RCV000516718
dbSNP Id:
rs1554136384
gnomAD v4:
6-18121432-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121432A>T , CM000668.2:g.18121432A>T | GRCh38 |
| NC_000006.11:g.18121663A>T , CM000668.1:g.18121663A>T | GRCh37 |
| NC_000006.10:g.18229642A>T | NCBI36 |
| NG_016750.1:g.6189T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.1175T>A MANE Select | ENSP00000345464.3:p.Val392Asp | |
| ENST00000340650.4:c.1175T>A | ENSP00000345464.3:p.Val392Asp | |
| NM_198586.2:c.1175T>A | NP_940988.2:p.Val392Asp | |
| NM_198586.3:c.1175T>A MANE Select | NP_940988.2:p.Val392Asp |