Linked Data
dbSNP Id:
rs770923712
ExAC:
17:4837064 T / A
gnomAD v2:
17-4837064-T-A
gnomAD v4:
17-4933769-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933769T>A , CM000679.2:g.4933769T>A | GRCh38 |
| NC_000017.10:g.4837064T>A , CM000679.1:g.4837064T>A | GRCh37 |
| NC_000017.9:g.4777844T>A | NCBI36 |
| NG_008767.2:g.6475T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1165T>A (GP1BA) MANE Select | ENSP00000329380.5:p.Ser389Thr | |
| ENST00000649830.1:c.-888+573A>T (CHRNE) | ENSP00000496907.1:n.-888+573A>T | |
| ENST00000329125.5:c.1165T>A (GP1BA) | ENSP00000329380.5:p.Ser389Thr | |
| ENST00000611961.1:c.1165T>A (GP1BA) | ENSP00000484439.1:p.Ser389Thr | |
| NM_000173.6:c.1165T>A (GP1BA) | NP_000164.5:p.Ser389Thr | |
| NM_000173.7:c.1165T>A (GP1BA) MANE Select | NP_000164.5:p.Ser389Thr |