Linked Data
dbSNP Id:
rs1207619232
gnomAD v2:
17-4805357-A-G
gnomAD v3:
17-4902062-A-G
gnomAD v4:
17-4902062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902062A>G , CM000679.2:g.4902062A>G | GRCh38 |
| NC_000017.10:g.4805357A>G , CM000679.1:g.4805357A>G | GRCh37 |
| NC_000017.9:g.4746136A>G | NCBI36 |
| NG_008029.2:g.6014T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1529A>G (C17orf107) MANE Select | ENSP00000370770.3:n.*1529A>G | |
| ENST00000649488.2:c.370T>C (CHRNE) MANE Select | ENSP00000497829.1:p.Tyr124His | |
| ENST00000649830.1:c.-564T>C (CHRNE) | ENSP00000496907.1:n.-564T>C | |
| ENST00000293780.4:c.370T>C (CHRNE) | ENSP00000293780.4:p.Tyr124His | |
| ENST00000381365.3:c.*1529A>G (C17orf107) | ENSP00000370770.3:n.*1529A>G | |
| ENST00000575637.1:n.191T>C (CHRNE) | ||
| NM_000080.3:c.370T>C (CHRNE) | NP_000071.1:p.Tyr124His | |
| NM_001145536.1:c.*1529A>G (C17orf107) | NP_001139008.1:n.*1529A>G | |
| XM_011523612.1:c.546+1556A>G (C17orf107) | XP_011521914.1:n.546+1556A>G | |
| XM_011523631.1:c.370T>C (CHRNE) | XP_011521933.1:p.Tyr124His | |
| NM_000080.4:c.370T>C (CHRNE) MANE Select | NP_000071.1:p.Tyr124His | |
| XM_017024115.1:c.334T>C (CHRNE) | XP_016879604.1:p.Tyr112His | |
| XR_001752421.1:n.1215T>C (CHRNE) | ||
| NM_001145536.2:c.*1529A>G (C17orf107) MANE Select | NP_001139008.1:n.*1529A>G |