Linked Data
ClinVar Variation Id:
1693270
ClinVar RCV Id:
RCV002260538
dbSNP Id:
rs368111193
ExAC:
17:4836479 C / T
gnomAD v2:
17-4836479-C-T
gnomAD v3:
17-4933184-C-T
gnomAD v4:
17-4933184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933184C>T , CM000679.2:g.4933184C>T | GRCh38 |
| NC_000017.10:g.4836479C>T , CM000679.1:g.4836479C>T | GRCh37 |
| NC_000017.9:g.4777259C>T | NCBI36 |
| NG_008767.2:g.5890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.580C>T (GP1BA) MANE Select | ENSP00000329380.5:p.Leu194Phe | |
| ENST00000649830.1:c.-888+1158G>A (CHRNE) | ENSP00000496907.1:n.-888+1158G>A | |
| ENST00000329125.5:c.580C>T (GP1BA) | ENSP00000329380.5:p.Leu194Phe | |
| ENST00000611961.1:c.580C>T (GP1BA) | ENSP00000484439.1:p.Leu194Phe | |
| NM_000173.6:c.580C>T (GP1BA) | NP_000164.5:p.Leu194Phe | |
| NM_000173.7:c.580C>T (GP1BA) MANE Select | NP_000164.5:p.Leu194Phe |