Linked Data
ClinVar Variation Id:
2396868
ClinVar RCV Id:
RCV002749399
dbSNP Id:
rs752908306
gnomAD v3:
15-28272372-G-A
gnomAD v4:
15-28272372-G-A
MyVariant Identifiers:
chr15:g.28272372G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28272372G>A , CM000677.2:g.28272372G>A | GRCh38 |
| NC_000015.8:g.26191113G>A | NCBI36 |
| NG_016355.1:g.54778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.926C>T MANE Select | ENSP00000261609.8:p.Ala309Val | |
| ENST00000261609.11:c.926C>T | ENSP00000261609.7:p.Ala309Val | |
| ENST00000563670.1:n.290C>T | ||
| ENST00000564734.5:c.*796C>T | ENSP00000456237.1:n.*796C>T | |
| NM_004667.5:c.926C>T | NP_004658.3:p.Ala309Val | |
| XM_005268276.3:c.812C>T | XP_005268333.1:p.Ala271Val | |
| XM_005268277.3:c.812C>T | XP_005268334.1:p.Ala271Val | |
| XM_006720726.2:c.926C>T | XP_006720789.1:p.Ala309Val | |
| XM_006720727.2:c.668C>T | XP_006720790.1:p.Ala223Val | |
| XM_011522131.1:c.443C>T | XP_011520433.1:p.Ala148Val | |
| XM_011522132.1:c.-51C>T | XP_011520434.1:n.-51C>T | |
| XM_011522133.1:c.322+20516C>T | XP_011520435.1:n.322+20516C>T | |
| XM_011522135.1:c.926C>T | XP_011520437.1:p.Ala309Val | |
| XM_011522136.1:c.926C>T | XP_011520438.1:p.Ala309Val | |
| XM_011522137.1:c.926C>T | XP_011520439.1:p.Ala309Val | |
| XR_931930.1:n.1055C>T | ||
| XR_931931.1:n.1055C>T | ||
| XM_005268276.5:c.812C>T | XP_005268333.1:p.Ala271Val | |
| XM_006720726.3:c.926C>T | XP_006720789.1:p.Ala309Val | |
| XM_006720727.3:c.668C>T | XP_006720790.1:p.Ala223Val | |
| XM_017022695.1:c.812C>T | XP_016878184.1:p.Ala271Val | |
| XM_017022696.1:c.812C>T | XP_016878185.1:p.Ala271Val | |
| XR_001751410.1:n.1056C>T | ||
| XR_931930.2:n.1056C>T | ||
| NM_004667.6:c.926C>T MANE Select | NP_004658.3:p.Ala309Val |