Linked Data
dbSNP Id:
rs7267421
gnomAD v2:
20-15227636-G-A
gnomAD v3:
20-15246990-G-A
gnomAD v4:
20-15246990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.15246990G>A , CM000682.2:g.15246990G>A | GRCh38 |
| NC_000020.10:g.15227636G>A , CM000682.1:g.15227636G>A | GRCh37 |
| NC_000020.9:g.15175636G>A | NCBI36 |
| NG_054905.1:g.1256491G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684519.1:c.540+16929G>A MANE Select | ENSP00000507484.1:n.540+16929G>A | |
| ENST00000642719.1:c.540+16929G>A | ENSP00000496601.1:n.540+16929G>A | |
| ENST00000217246.8:c.540+16929G>A | ENSP00000217246.4:n.540+16929G>A | |
| ENST00000402914.5:c.-166+16929G>A | ENSP00000385290.1:n.-166+16929G>A | |
| NM_001033087.1:c.-166+16929G>A | NP_001028259.1:n.-166+16929G>A | |
| NM_080676.5:c.540+16929G>A | NP_542407.2:n.540+16929G>A | |
| NM_001351661.1:c.540+16929G>A | NP_001338590.1:n.540+16929G>A | |
| NM_001351663.1:c.540+16929G>A | NP_001338592.1:n.540+16929G>A | |
| NM_001351664.1:c.-166+16929G>A | NP_001338593.1:n.-166+16929G>A | |
| NM_001033087.2:c.-166+16929G>A | NP_001028259.1:n.-166+16929G>A | |
| NM_001351661.2:c.540+16929G>A MANE Select | NP_001338590.1:n.540+16929G>A | |
| NM_001351663.2:c.540+16929G>A | NP_001338592.1:n.540+16929G>A | |
| NM_001351664.2:c.-166+16929G>A | NP_001338593.1:n.-166+16929G>A | |
| NM_080676.6:c.540+16929G>A | NP_542407.2:n.540+16929G>A |