Linked Data
ClinVar Variation Id:
1703855
ClinVar RCV Id:
RCV002281014
dbSNP Id:
rs1000836753
gnomAD v2:
17-4837007-A-G
gnomAD v3:
17-4933712-A-G
gnomAD v4:
17-4933712-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933712A>G , CM000679.2:g.4933712A>G | GRCh38 |
| NC_000017.10:g.4837007A>G , CM000679.1:g.4837007A>G | GRCh37 |
| NC_000017.9:g.4777787A>G | NCBI36 |
| NG_008767.2:g.6418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1108A>G (GP1BA) MANE Select | ENSP00000329380.5:p.Ile370Val | |
| ENST00000649830.1:c.-888+630T>C (CHRNE) | ENSP00000496907.1:n.-888+630T>C | |
| ENST00000329125.5:c.1108A>G (GP1BA) | ENSP00000329380.5:p.Ile370Val | |
| ENST00000611961.1:c.1108A>G (GP1BA) | ENSP00000484439.1:p.Ile370Val | |
| NM_000173.6:c.1108A>G (GP1BA) | NP_000164.5:p.Ile370Val | |
| NM_000173.7:c.1108A>G (GP1BA) MANE Select | NP_000164.5:p.Ile370Val |