Linked Data
dbSNP Id:
rs964404121
gnomAD v2:
15-28488948-G-A
gnomAD v3:
15-28243802-G-A
gnomAD v4:
15-28243802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28243802G>A , CM000677.2:g.28243802G>A | GRCh38 |
| NC_000015.9:g.28488948G>A , CM000677.1:g.28488948G>A | GRCh37 |
| NC_000015.8:g.26162543G>A | NCBI36 |
| NG_016355.1:g.83348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.3577+2079C>T MANE Select | ENSP00000261609.8:n.3577+2079C>T | |
| ENST00000261609.11:c.3577+2079C>T | ENSP00000261609.7:n.3577+2079C>T | |
| NM_004667.5:c.3577+2079C>T | NP_004658.3:n.3577+2079C>T | |
| XM_005268276.3:c.3463+2079C>T | XP_005268333.1:n.3463+2079C>T | |
| XM_005268277.3:c.3463+2079C>T | XP_005268334.1:n.3463+2079C>T | |
| XM_006720726.2:c.3577+2079C>T | XP_006720789.1:n.3577+2079C>T | |
| XM_006720727.2:c.3319+2079C>T | XP_006720790.1:n.3319+2079C>T | |
| XM_011522131.1:c.3094+2079C>T | XP_011520433.1:n.3094+2079C>T | |
| XM_011522132.1:c.1093+2079C>T | XP_011520434.1:n.1093+2079C>T | |
| XM_011522133.1:c.323-5030C>T | XP_011520435.1:n.323-5030C>T | |
| XM_011522135.1:c.3577+2079C>T | XP_011520437.1:n.3577+2079C>T | |
| XM_011522136.1:c.3577+2079C>T | XP_011520438.1:n.3577+2079C>T | |
| XM_011522137.1:c.3577+2079C>T | XP_011520439.1:n.3577+2079C>T | |
| XR_931930.1:n.3706+2079C>T | ||
| XR_931931.1:n.3706+2079C>T | ||
| XM_005268276.5:c.3463+2079C>T | XP_005268333.1:n.3463+2079C>T | |
| XM_006720726.3:c.3577+2079C>T | XP_006720789.1:n.3577+2079C>T | |
| XM_006720727.3:c.3319+2079C>T | XP_006720790.1:n.3319+2079C>T | |
| XM_017022695.1:c.3463+2079C>T | XP_016878184.1:n.3463+2079C>T | |
| XM_017022696.1:c.3463+2079C>T | XP_016878185.1:n.3463+2079C>T | |
| XR_001751410.1:n.3707+2079C>T | ||
| XR_931930.2:n.3707+2079C>T | ||
| NM_004667.6:c.3577+2079C>T MANE Select | NP_004658.3:n.3577+2079C>T |