Linked Data
dbSNP Id:
rs1291365888
gnomAD v2:
17-4836839-T-G
gnomAD v3:
17-4933544-T-G
gnomAD v4:
17-4933544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933544T>G , CM000679.2:g.4933544T>G | GRCh38 |
| NC_000017.10:g.4836839T>G , CM000679.1:g.4836839T>G | GRCh37 |
| NC_000017.9:g.4777619T>G | NCBI36 |
| NG_008767.2:g.6250T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.940T>G (GP1BA) MANE Select | ENSP00000329380.5:p.Phe314Val | |
| ENST00000649830.1:c.-888+798A>C (CHRNE) | ENSP00000496907.1:n.-888+798A>C | |
| ENST00000329125.5:c.940T>G (GP1BA) | ENSP00000329380.5:p.Phe314Val | |
| ENST00000611961.1:c.940T>G (GP1BA) | ENSP00000484439.1:p.Phe314Val | |
| NM_000173.6:c.940T>G (GP1BA) | NP_000164.5:p.Phe314Val | |
| NM_000173.7:c.940T>G (GP1BA) MANE Select | NP_000164.5:p.Phe314Val |