Linked Data
dbSNP Id:
rs778293898
ExAC:
15:28386682 C / T
gnomAD v2:
15-28386682-C-T
gnomAD v3:
15-28141536-C-T
gnomAD v4:
15-28141536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141536C>T , CM000677.2:g.28141536C>T | GRCh38 |
| NC_000015.9:g.28386682C>T , CM000677.1:g.28386682C>T | GRCh37 |
| NC_000015.8:g.26060277C>T | NCBI36 |
| NG_016355.1:g.185614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11911G>A MANE Select | ENSP00000261609.8:p.Ala3971Thr | |
| ENST00000650509.1:c.3622G>A | ENSP00000496936.1:p.Ala1208Thr | |
| ENST00000261609.11:c.11911G>A | ENSP00000261609.7:p.Ala3971Thr | |
| NM_004667.5:c.11911G>A | NP_004658.3:p.Ala3971Thr | |
| XM_005268276.3:c.11797G>A | XP_005268333.1:p.Ala3933Thr | |
| XM_005268277.3:c.11797G>A | XP_005268334.1:p.Ala3933Thr | |
| XM_006720726.2:c.11896G>A | XP_006720789.1:p.Ala3966Thr | |
| XM_006720727.2:c.11653G>A | XP_006720790.1:p.Ala3885Thr | |
| XM_011522131.1:c.11428G>A | XP_011520433.1:p.Ala3810Thr | |
| XM_011522132.1:c.9427G>A | XP_011520434.1:p.Ala3143Thr | |
| XM_011522133.1:c.8656G>A | XP_011520435.1:p.Ala2886Thr | |
| XM_011522134.1:c.6028G>A | XP_011520436.1:p.Ala2010Thr | |
| XM_005268276.5:c.11797G>A | XP_005268333.1:p.Ala3933Thr | |
| XM_006720726.3:c.11896G>A | XP_006720789.1:p.Ala3966Thr | |
| XM_006720727.3:c.11653G>A | XP_006720790.1:p.Ala3885Thr | |
| XM_017022695.1:c.11797G>A | XP_016878184.1:p.Ala3933Thr | |
| XM_017022696.1:c.11797G>A | XP_016878185.1:p.Ala3933Thr | |
| XM_017022697.1:c.5077G>A | XP_016878186.1:p.Ala1693Thr | |
| XM_017022698.1:c.5077G>A | XP_016878187.1:p.Ala1693Thr | |
| NM_004667.6:c.11911G>A MANE Select | NP_004658.3:p.Ala3971Thr |