Linked Data
dbSNP Id:
rs751665448
ExAC:
17:4805328 G / T
gnomAD v2:
17-4805328-G-T
gnomAD v4:
17-4902033-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902033G>T , CM000679.2:g.4902033G>T | GRCh38 |
| NC_000017.10:g.4805328G>T , CM000679.1:g.4805328G>T | GRCh37 |
| NC_000017.9:g.4746107G>T | NCBI36 |
| NG_008029.2:g.6043C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1500G>T (C17orf107) MANE Select | ENSP00000370770.3:n.*1500G>T | |
| ENST00000649488.2:c.399C>A (CHRNE) MANE Select | ENSP00000497829.1:p.Gly133= | |
| ENST00000649830.1:c.-535C>A (CHRNE) | ENSP00000496907.1:n.-535C>A | |
| ENST00000293780.4:c.399C>A (CHRNE) | ENSP00000293780.4:p.Gly133= | |
| ENST00000381365.3:c.*1500G>T (C17orf107) | ENSP00000370770.3:n.*1500G>T | |
| ENST00000575637.1:n.220C>A (CHRNE) | ||
| NM_000080.3:c.399C>A (CHRNE) | NP_000071.1:p.Gly133= | |
| NM_001145536.1:c.*1500G>T (C17orf107) | NP_001139008.1:n.*1500G>T | |
| XM_011523612.1:c.546+1527G>T (C17orf107) | XP_011521914.1:n.546+1527G>T | |
| XM_011523631.1:c.399C>A (CHRNE) | XP_011521933.1:p.Gly133= | |
| NM_000080.4:c.399C>A (CHRNE) MANE Select | NP_000071.1:p.Gly133= | |
| XM_017024115.1:c.363C>A (CHRNE) | XP_016879604.1:p.Gly121= | |
| XR_001752421.1:n.1244C>A (CHRNE) | ||
| NM_001145536.2:c.*1500G>T (C17orf107) MANE Select | NP_001139008.1:n.*1500G>T |