Linked Data
dbSNP Id:
rs576704357
gnomAD v2:
15-28365634-G-A
gnomAD v3:
15-28120488-G-A
gnomAD v4:
15-28120488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28120488G>A , CM000677.2:g.28120488G>A | GRCh38 |
| NC_000015.9:g.28365634G>A , CM000677.1:g.28365634G>A | GRCh37 |
| NC_000015.8:g.26039229G>A | NCBI36 |
| NG_016355.1:g.206662C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.13272+858C>T MANE Select | ENSP00000261609.8:n.13272+858C>T | |
| ENST00000650509.1:c.4751+858C>T | ENSP00000496936.1:n.4751+858C>T | |
| ENST00000261609.11:c.13272+858C>T | ENSP00000261609.7:n.13272+858C>T | |
| NM_004667.5:c.13272+858C>T | NP_004658.3:n.13272+858C>T | |
| XM_005268276.3:c.13158+858C>T | XP_005268333.1:n.13158+858C>T | |
| XM_005268277.3:c.13158+858C>T | XP_005268334.1:n.13158+858C>T | |
| XM_006720726.2:c.13257+858C>T | XP_006720789.1:n.13257+858C>T | |
| XM_006720727.2:c.13014+858C>T | XP_006720790.1:n.13014+858C>T | |
| XM_011522131.1:c.12789+858C>T | XP_011520433.1:n.12789+858C>T | |
| XM_011522132.1:c.10788+858C>T | XP_011520434.1:n.10788+858C>T | |
| XM_011522133.1:c.10017+858C>T | XP_011520435.1:n.10017+858C>T | |
| XM_011522134.1:c.7389+858C>T | XP_011520436.1:n.7389+858C>T | |
| XM_005268276.5:c.13158+858C>T | XP_005268333.1:n.13158+858C>T | |
| XM_006720726.3:c.13257+858C>T | XP_006720789.1:n.13257+858C>T | |
| XM_006720727.3:c.13014+858C>T | XP_006720790.1:n.13014+858C>T | |
| XM_017022695.1:c.13158+858C>T | XP_016878184.1:n.13158+858C>T | |
| XM_017022696.1:c.13158+858C>T | XP_016878185.1:n.13158+858C>T | |
| XM_017022697.1:c.6438+858C>T | XP_016878186.1:n.6438+858C>T | |
| XM_017022698.1:c.6438+858C>T | XP_016878187.1:n.6438+858C>T | |
| NM_004667.6:c.13272+858C>T MANE Select | NP_004658.3:n.13272+858C>T |