Linked Data
ClinVar Variation Id:
1800684
ClinVar RCV Id:
RCV002461823
dbSNP Id:
rs776871202
ExAC:
15:28386595 C / T
gnomAD v2:
15-28386595-C-T
gnomAD v4:
15-28141449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141449C>T , CM000677.2:g.28141449C>T | GRCh38 |
| NC_000015.9:g.28386595C>T , CM000677.1:g.28386595C>T | GRCh37 |
| NC_000015.8:g.26060190C>T | NCBI36 |
| NG_016355.1:g.185701G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11998G>A MANE Select | ENSP00000261609.8:p.Val4000Met | |
| ENST00000650509.1:c.3709G>A | ENSP00000496936.1:p.Val1237Met | |
| ENST00000261609.11:c.11998G>A | ENSP00000261609.7:p.Val4000Met | |
| NM_004667.5:c.11998G>A | NP_004658.3:p.Val4000Met | |
| XM_005268276.3:c.11884G>A | XP_005268333.1:p.Val3962Met | |
| XM_005268277.3:c.11884G>A | XP_005268334.1:p.Val3962Met | |
| XM_006720726.2:c.11983G>A | XP_006720789.1:p.Val3995Met | |
| XM_006720727.2:c.11740G>A | XP_006720790.1:p.Val3914Met | |
| XM_011522131.1:c.11515G>A | XP_011520433.1:p.Val3839Met | |
| XM_011522132.1:c.9514G>A | XP_011520434.1:p.Val3172Met | |
| XM_011522133.1:c.8743G>A | XP_011520435.1:p.Val2915Met | |
| XM_011522134.1:c.6115G>A | XP_011520436.1:p.Val2039Met | |
| XM_005268276.5:c.11884G>A | XP_005268333.1:p.Val3962Met | |
| XM_006720726.3:c.11983G>A | XP_006720789.1:p.Val3995Met | |
| XM_006720727.3:c.11740G>A | XP_006720790.1:p.Val3914Met | |
| XM_017022695.1:c.11884G>A | XP_016878184.1:p.Val3962Met | |
| XM_017022696.1:c.11884G>A | XP_016878185.1:p.Val3962Met | |
| XM_017022697.1:c.5164G>A | XP_016878186.1:p.Val1722Met | |
| XM_017022698.1:c.5164G>A | XP_016878187.1:p.Val1722Met | |
| NM_004667.6:c.11998G>A MANE Select | NP_004658.3:p.Val4000Met |