Linked Data
ClinVar Variation Id:
18359
dbSNP Id:
rs372635387
ExAC:
17:4806322 C / T
gnomAD v2:
17-4806322-C-T
gnomAD v3:
17-4903027-C-T
gnomAD v4:
17-4903027-C-T
PubMed:
PMID:8755487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4903027C>T , CM000679.2:g.4903027C>T | GRCh38 |
| NC_000017.10:g.4806322C>T , CM000679.1:g.4806322C>T | GRCh37 |
| NC_000017.9:g.4747101C>T | NCBI36 |
| NG_008029.2:g.5049G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.37G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Gly13Arg | |
| ENST00000649830.1:c.-887-264G>A (CHRNE) | ENSP00000496907.1:n.-887-264G>A | |
| ENST00000293780.4:c.37G>A (CHRNE) | ENSP00000293780.4:p.Gly13Arg | |
| NM_000080.3:c.37G>A (CHRNE) | NP_000071.1:p.Gly13Arg | |
| XM_011523612.1:c.547-1977C>T (C17orf107) | XP_011521914.1:n.547-1977C>T | |
| XM_011523631.1:c.37G>A (CHRNE) | XP_011521933.1:p.Gly13Arg | |
| NM_000080.4:c.37G>A (CHRNE) MANE Select | NP_000071.1:p.Gly13Arg | |
| XM_017024115.1:c.11-264G>A (CHRNE) | XP_016879604.1:n.11-264G>A | |
| XR_001752421.1:n.882G>A (CHRNE) |