Linked Data
ClinVar Variation Id:
929457
ClinVar RCV Id:
RCV001194644
dbSNP Id:
rs2080439314
gnomAD v4:
X-68829800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829800G>A , CM000685.2:g.68829800G>A | GRCh38 |
| NC_000023.10:g.68049643G>A , CM000685.1:g.68049643G>A | GRCh37 |
| NC_000023.9:g.67966368G>A | NCBI36 |
| NG_008887.1:g.5804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.24G>A MANE Select | ENSP00000204961.4:p.Trp8Ter | |
| ENST00000204961.4:c.24G>A | ENSP00000204961.4:p.Trp8Ter | |
| NM_004429.4:c.24G>A | NP_004420.1:p.Trp8Ter | |
| NM_004429.5:c.24G>A MANE Select | NP_004420.1:p.Trp8Ter |