Linked Data
dbSNP Id:
rs753279273
ExAC:
15:28386667 G / A
gnomAD v2:
15-28386667-G-A
gnomAD v4:
15-28141521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141521G>A , CM000677.2:g.28141521G>A | GRCh38 |
| NC_000015.9:g.28386667G>A , CM000677.1:g.28386667G>A | GRCh37 |
| NC_000015.8:g.26060262G>A | NCBI36 |
| NG_016355.1:g.185629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11926C>T MANE Select | ENSP00000261609.8:p.Pro3976Ser | |
| ENST00000650509.1:c.3637C>T | ENSP00000496936.1:p.Pro1213Ser | |
| ENST00000261609.11:c.11926C>T | ENSP00000261609.7:p.Pro3976Ser | |
| NM_004667.5:c.11926C>T | NP_004658.3:p.Pro3976Ser | |
| XM_005268276.3:c.11812C>T | XP_005268333.1:p.Pro3938Ser | |
| XM_005268277.3:c.11812C>T | XP_005268334.1:p.Pro3938Ser | |
| XM_006720726.2:c.11911C>T | XP_006720789.1:p.Pro3971Ser | |
| XM_006720727.2:c.11668C>T | XP_006720790.1:p.Pro3890Ser | |
| XM_011522131.1:c.11443C>T | XP_011520433.1:p.Pro3815Ser | |
| XM_011522132.1:c.9442C>T | XP_011520434.1:p.Pro3148Ser | |
| XM_011522133.1:c.8671C>T | XP_011520435.1:p.Pro2891Ser | |
| XM_011522134.1:c.6043C>T | XP_011520436.1:p.Pro2015Ser | |
| XM_005268276.5:c.11812C>T | XP_005268333.1:p.Pro3938Ser | |
| XM_006720726.3:c.11911C>T | XP_006720789.1:p.Pro3971Ser | |
| XM_006720727.3:c.11668C>T | XP_006720790.1:p.Pro3890Ser | |
| XM_017022695.1:c.11812C>T | XP_016878184.1:p.Pro3938Ser | |
| XM_017022696.1:c.11812C>T | XP_016878185.1:p.Pro3938Ser | |
| XM_017022697.1:c.5092C>T | XP_016878186.1:p.Pro1698Ser | |
| XM_017022698.1:c.5092C>T | XP_016878187.1:p.Pro1698Ser | |
| NM_004667.6:c.11926C>T MANE Select | NP_004658.3:p.Pro3976Ser |