Linked Data
ClinVar Variation Id:
255460
dbSNP Id:
rs2243093
ExAC:
17:4835895 T / C
gnomAD v2:
17-4835895-T-C
gnomAD v3:
17-4932600-T-C
gnomAD v4:
17-4932600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4932600T>C , CM000679.2:g.4932600T>C | GRCh38 |
| NC_000017.10:g.4835895T>C , CM000679.1:g.4835895T>C | GRCh37 |
| NC_000017.9:g.4776675T>C | NCBI36 |
| NG_008767.2:g.5306T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329125.6:c.-5T>C (GP1BA) MANE Select | ENSP00000329380.5:n.-5T>C | |
| ENST00000649830.1:c.-888+1742A>G (CHRNE) | ENSP00000496907.1:n.-888+1742A>G | |
| ENST00000329125.5:c.-5T>C (GP1BA) | ENSP00000329380.5:n.-5T>C | |
| ENST00000611961.1:c.-5T>C (GP1BA) | ENSP00000484439.1:n.-5T>C | |
| NM_000173.6:c.-5T>C (GP1BA) | NP_000164.5:n.-5T>C | |
| NM_000173.7:c.-5T>C (GP1BA) MANE Select | NP_000164.5:n.-5T>C |