Linked Data
dbSNP Id:
rs370143701
ExAC:
17:4837338 C / T
gnomAD v2:
17-4837338-C-T
gnomAD v3:
17-4934043-C-T
gnomAD v4:
17-4934043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934043C>T , CM000679.2:g.4934043C>T | GRCh38 |
| NC_000017.10:g.4837338C>T , CM000679.1:g.4837338C>T | GRCh37 |
| NC_000017.9:g.4778079C>T | NCBI36 |
| NG_008767.2:g.6749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1439C>T (GP1BA) MANE Select | ENSP00000329380.5:p.Thr480Ile | |
| ENST00000649830.1:c.-888+299G>A (CHRNE) | ENSP00000496907.1:n.-888+299G>A | |
| ENST00000329125.5:c.1439C>T (GP1BA) | ENSP00000329380.5:p.Thr480Ile | |
| ENST00000611961.1:c.1361C>T (GP1BA) | ENSP00000484439.1:p.Thr454Ile | |
| NM_000173.6:c.1439C>T (GP1BA) | NP_000164.5:p.Thr480Ile | |
| NM_000173.7:c.1439C>T (GP1BA) MANE Select | NP_000164.5:p.Thr480Ile |