Linked Data
dbSNP Id:
rs765267109
ExAC:
17:4805575 C / T
gnomAD v2:
17-4805575-C-T
gnomAD v4:
17-4902280-C-T
COSMIC:
COSM3937449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902280C>T , CM000679.2:g.4902280C>T | GRCh38 |
| NC_000017.10:g.4805575C>T , CM000679.1:g.4805575C>T | GRCh37 |
| NC_000017.9:g.4746354C>T | NCBI36 |
| NG_008029.2:g.5796G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381365.4:c.*1747C>T (C17orf107) MANE Select | ENSP00000370770.3:n.*1747C>T | |
| ENST00000649488.2:c.281G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Gly94Asp | |
| ENST00000649830.1:c.-653G>A (CHRNE) | ENSP00000496907.1:n.-653G>A | |
| ENST00000293780.4:c.281G>A (CHRNE) | ENSP00000293780.4:p.Gly94Asp | |
| ENST00000381365.3:c.*1747C>T (C17orf107) | ENSP00000370770.3:n.*1747C>T | |
| ENST00000575637.1:n.102G>A (CHRNE) | ||
| NM_000080.3:c.281G>A (CHRNE) | NP_000071.1:p.Gly94Asp | |
| NM_001145536.1:c.*1747C>T (C17orf107) | NP_001139008.1:n.*1747C>T | |
| XM_011523612.1:c.546+1774C>T (C17orf107) | XP_011521914.1:n.546+1774C>T | |
| XM_011523631.1:c.281G>A (CHRNE) | XP_011521933.1:p.Gly94Asp | |
| NM_000080.4:c.281G>A (CHRNE) MANE Select | NP_000071.1:p.Gly94Asp | |
| XM_017024115.1:c.245G>A (CHRNE) | XP_016879604.1:p.Gly82Asp | |
| XR_001752421.1:n.1126G>A (CHRNE) | ||
| NM_001145536.2:c.*1747C>T (C17orf107) MANE Select | NP_001139008.1:n.*1747C>T |