Linked Data
dbSNP Id:
rs749624987
ExAC:
17:4836938 G / C
gnomAD v2:
17-4836938-G-C
gnomAD v3:
17-4933643-G-C
gnomAD v4:
17-4933643-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933643G>C , CM000679.2:g.4933643G>C | GRCh38 |
| NC_000017.10:g.4836938G>C , CM000679.1:g.4836938G>C | GRCh37 |
| NC_000017.9:g.4777718G>C | NCBI36 |
| NG_008767.2:g.6349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1039G>C (GP1BA) MANE Select | ENSP00000329380.5:p.Glu347Gln | |
| ENST00000649830.1:c.-888+699C>G (CHRNE) | ENSP00000496907.1:n.-888+699C>G | |
| ENST00000329125.5:c.1039G>C (GP1BA) | ENSP00000329380.5:p.Glu347Gln | |
| ENST00000611961.1:c.1039G>C (GP1BA) | ENSP00000484439.1:p.Glu347Gln | |
| NM_000173.6:c.1039G>C (GP1BA) | NP_000164.5:p.Glu347Gln | |
| NM_000173.7:c.1039G>C (GP1BA) MANE Select | NP_000164.5:p.Glu347Gln |