Linked Data
ClinVar Variation Id:
1532782
ClinVar RCV Id:
RCV002087306
dbSNP Id:
rs2100807260
gnomAD v4:
1-68431272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431272G>A , CM000663.2:g.68431272G>A | GRCh38 |
| NC_000001.10:g.68896955G>A , CM000663.1:g.68896955G>A | GRCh37 |
| NC_000001.9:g.68669543G>A | NCBI36 |
| NG_008472.1:g.23688C>T | |
| NG_008472.2:g.23688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338+10C>T MANE Select | ENSP00000262340.5:n.1338+10C>T | |
| ENST00000262340.5:c.1338+10C>T | ENSP00000262340.5:n.1338+10C>T | |
| NM_000329.2:c.1338+10C>T | NP_000320.1:n.1338+10C>T | |
| XM_017002027.1:c.1062+10C>T | XP_016857516.1:n.1062+10C>T | |
| NM_000329.3:c.1338+10C>T MANE Select | NP_000320.1:n.1338+10C>T |