Linked Data
ClinVar Variation Id:
941793
ClinVar RCV Id:
RCV001211646
dbSNP Id:
rs1355919795
gnomAD v4:
20-10658720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658720G>A , CM000682.2:g.10658720G>A | GRCh38 |
| NC_000020.10:g.10639368G>A , CM000682.1:g.10639368G>A | GRCh37 |
| NC_000020.9:g.10587368G>A | NCBI36 |
| NG_007496.1:g.20327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.442C>T MANE Select | ENSP00000254958.4:p.Pro148Ser | |
| ENST00000254958.9:c.442C>T | ENSP00000254958.4:p.Pro148Ser | |
| ENST00000423891.6:n.308C>T | ||
| NM_000214.2:c.442C>T | NP_000205.1:p.Pro148Ser | |
| NM_000214.3:c.442C>T MANE Select | NP_000205.1:p.Pro148Ser |