Linked Data
ClinVar Variation Id:
2557863
ClinVar RCV Id:
RCV003282971
dbSNP Id:
rs1970375220
gnomAD v4:
17-4933577-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933577C>A , CM000679.2:g.4933577C>A | GRCh38 |
| NC_000017.10:g.4836872C>A , CM000679.1:g.4836872C>A | GRCh37 |
| NC_000017.9:g.4777652C>A | NCBI36 |
| NG_008767.2:g.6283C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.973C>A (GP1BA) MANE Select | ENSP00000329380.5:p.Leu325Ile | |
| ENST00000649830.1:c.-888+765G>T (CHRNE) | ENSP00000496907.1:n.-888+765G>T | |
| ENST00000329125.5:c.973C>A (GP1BA) | ENSP00000329380.5:p.Leu325Ile | |
| ENST00000611961.1:c.973C>A (GP1BA) | ENSP00000484439.1:p.Leu325Ile | |
| NM_000173.6:c.973C>A (GP1BA) | NP_000164.5:p.Leu325Ile | |
| NM_000173.7:c.973C>A (GP1BA) MANE Select | NP_000164.5:p.Leu325Ile |