Linked Data
dbSNP Id:
rs1129038
ExAC:
15:28356859 C / T
gnomAD v2:
15-28356859-C-T
gnomAD v3:
15-28111713-C-T
gnomAD v4:
15-28111713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28111713C>T , CM000677.2:g.28111713C>T | GRCh38 |
| NC_000015.9:g.28356859C>T , CM000677.1:g.28356859C>T | GRCh37 |
| NC_000015.8:g.26030454C>T | NCBI36 |
| NG_016355.1:g.215437G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.*50G>A MANE Select | ENSP00000261609.8:n.*50G>A | |
| ENST00000650509.1:c.6034G>A | ENSP00000496936.1:n.6034G>A | |
| ENST00000261609.11:c.*50G>A | ENSP00000261609.7:n.*50G>A | |
| ENST00000566635.5:n.1680G>A | ||
| NM_004667.5:c.*50G>A | NP_004658.3:n.*50G>A | |
| XM_005268276.3:c.*50G>A | XP_005268333.1:n.*50G>A | |
| XM_005268277.3:c.*50G>A | XP_005268334.1:n.*50G>A | |
| XM_006720726.2:c.*50G>A | XP_006720789.1:n.*50G>A | |
| XM_006720727.2:c.*50G>A | XP_006720790.1:n.*50G>A | |
| XM_011522131.1:c.*50G>A | XP_011520433.1:n.*50G>A | |
| XM_011522132.1:c.*50G>A | XP_011520434.1:n.*50G>A | |
| XM_011522133.1:c.*50G>A | XP_011520435.1:n.*50G>A | |
| XM_011522134.1:c.*50G>A | XP_011520436.1:n.*50G>A | |
| XM_005268276.5:c.*50G>A | XP_005268333.1:n.*50G>A | |
| XM_006720726.3:c.*50G>A | XP_006720789.1:n.*50G>A | |
| XM_006720727.3:c.*50G>A | XP_006720790.1:n.*50G>A | |
| XM_017022695.1:c.*50G>A | XP_016878184.1:n.*50G>A | |
| XM_017022696.1:c.*50G>A | XP_016878185.1:n.*50G>A | |
| XM_017022697.1:c.*50G>A | XP_016878186.1:n.*50G>A | |
| XM_017022698.1:c.*50G>A | XP_016878187.1:n.*50G>A | |
| NM_004667.6:c.*50G>A MANE Select | NP_004658.3:n.*50G>A |