Linked Data
ClinVar Variation Id:
463040
ClinVar RCV Id:
RCV000526164
dbSNP Id:
rs1341004065
gnomAD v4:
X-17376034-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17376034G>T , CM000685.2:g.17376034G>T | GRCh38 |
| NC_000023.10:g.17394157G>T , CM000685.1:g.17394157G>T | GRCh37 |
| NC_000023.9:g.17304078G>T | NCBI36 |
| NG_011553.2:g.5615G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676302.1:c.277G>T MANE Select | ENSP00000502262.1:p.Glu93Ter | |
| ENST00000380060.7:c.277G>T | ENSP00000369400.3:p.Glu93Ter | |
| NM_001291867.1:c.277G>T | NP_001278796.1:p.Glu93Ter | |
| NM_198270.3:c.277G>T | NP_938011.1:p.Glu93Ter | |
| NM_001291867.2:c.277G>T MANE Select | NP_001278796.1:p.Glu93Ter | |
| NM_198270.4:c.277G>T | NP_938011.1:p.Glu93Ter |