Linked Data
ClinVar Variation Id:
1335170
ClinVar RCV Id:
RCV001815775
dbSNP Id:
rs762974758
ExAC:
15:28386620 G / A
gnomAD v2:
15-28386620-G-A
gnomAD v3:
15-28141474-G-A
gnomAD v4:
15-28141474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141474G>A , CM000677.2:g.28141474G>A | GRCh38 |
| NC_000015.9:g.28386620G>A , CM000677.1:g.28386620G>A | GRCh37 |
| NC_000015.8:g.26060215G>A | NCBI36 |
| NG_016355.1:g.185676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11973C>T MANE Select | ENSP00000261609.8:p.Ile3991= | |
| ENST00000650509.1:c.3684C>T | ENSP00000496936.1:p.Ile1228= | |
| ENST00000261609.11:c.11973C>T | ENSP00000261609.7:p.Ile3991= | |
| NM_004667.5:c.11973C>T | NP_004658.3:p.Ile3991= | |
| XM_005268276.3:c.11859C>T | XP_005268333.1:p.Ile3953= | |
| XM_005268277.3:c.11859C>T | XP_005268334.1:p.Ile3953= | |
| XM_006720726.2:c.11958C>T | XP_006720789.1:p.Ile3986= | |
| XM_006720727.2:c.11715C>T | XP_006720790.1:p.Ile3905= | |
| XM_011522131.1:c.11490C>T | XP_011520433.1:p.Ile3830= | |
| XM_011522132.1:c.9489C>T | XP_011520434.1:p.Ile3163= | |
| XM_011522133.1:c.8718C>T | XP_011520435.1:p.Ile2906= | |
| XM_011522134.1:c.6090C>T | XP_011520436.1:p.Ile2030= | |
| XM_005268276.5:c.11859C>T | XP_005268333.1:p.Ile3953= | |
| XM_006720726.3:c.11958C>T | XP_006720789.1:p.Ile3986= | |
| XM_006720727.3:c.11715C>T | XP_006720790.1:p.Ile3905= | |
| XM_017022695.1:c.11859C>T | XP_016878184.1:p.Ile3953= | |
| XM_017022696.1:c.11859C>T | XP_016878185.1:p.Ile3953= | |
| XM_017022697.1:c.5139C>T | XP_016878186.1:p.Ile1713= | |
| XM_017022698.1:c.5139C>T | XP_016878187.1:p.Ile1713= | |
| NM_004667.6:c.11973C>T MANE Select | NP_004658.3:p.Ile3991= |