Linked Data
ClinVar Variation Id:
373138
ClinVar RCV Id:
RCV000414475
dbSNP Id:
rs1057518244
gnomAD v4:
10-93621931-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93621931G>T , CM000672.2:g.93621931G>T | GRCh38 |
| NC_000010.10:g.95381688G>T , CM000672.1:g.95381688G>T | GRCh37 |
| NC_000010.9:g.95371678G>T | NCBI36 |
| NG_016752.1:g.14344G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371447.4:c.724-1G>T MANE Select | ENSP00000360502.3:n.724-1G>T | |
| ENST00000371447.3:c.724-1G>T | ENSP00000360502.3:n.724-1G>T | |
| NM_006204.3:c.724-1G>T | NP_006195.3:n.724-1G>T | |
| NM_006204.4:c.724-1G>T MANE Select | NP_006195.3:n.724-1G>T |