Linked Data
dbSNP Id:
rs752083137
ExAC:
15:28386797 G / A
gnomAD v2:
15-28386797-G-A
gnomAD v3:
15-28141651-G-A
gnomAD v4:
15-28141651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141651G>A , CM000677.2:g.28141651G>A | GRCh38 |
| NC_000015.9:g.28386797G>A , CM000677.1:g.28386797G>A | GRCh37 |
| NC_000015.8:g.26060392G>A | NCBI36 |
| NG_016355.1:g.185499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11817-21C>T MANE Select | ENSP00000261609.8:n.11817-21C>T | |
| ENST00000650509.1:c.3528-21C>T | ENSP00000496936.1:n.3528-21C>T | |
| ENST00000261609.11:c.11817-21C>T | ENSP00000261609.7:n.11817-21C>T | |
| NM_004667.5:c.11817-21C>T | NP_004658.3:n.11817-21C>T | |
| XM_005268276.3:c.11703-21C>T | XP_005268333.1:n.11703-21C>T | |
| XM_005268277.3:c.11703-21C>T | XP_005268334.1:n.11703-21C>T | |
| XM_006720726.2:c.11802-21C>T | XP_006720789.1:n.11802-21C>T | |
| XM_006720727.2:c.11559-21C>T | XP_006720790.1:n.11559-21C>T | |
| XM_011522131.1:c.11334-21C>T | XP_011520433.1:n.11334-21C>T | |
| XM_011522132.1:c.9333-21C>T | XP_011520434.1:n.9333-21C>T | |
| XM_011522133.1:c.8562-21C>T | XP_011520435.1:n.8562-21C>T | |
| XM_011522134.1:c.5934-21C>T | XP_011520436.1:n.5934-21C>T | |
| XM_005268276.5:c.11703-21C>T | XP_005268333.1:n.11703-21C>T | |
| XM_006720726.3:c.11802-21C>T | XP_006720789.1:n.11802-21C>T | |
| XM_006720727.3:c.11559-21C>T | XP_006720790.1:n.11559-21C>T | |
| XM_017022695.1:c.11703-21C>T | XP_016878184.1:n.11703-21C>T | |
| XM_017022696.1:c.11703-21C>T | XP_016878185.1:n.11703-21C>T | |
| XM_017022697.1:c.4983-21C>T | XP_016878186.1:n.4983-21C>T | |
| XM_017022698.1:c.4983-21C>T | XP_016878187.1:n.4983-21C>T | |
| NM_004667.6:c.11817-21C>T MANE Select | NP_004658.3:n.11817-21C>T |