Linked Data
ClinVar Variation Id:
1933355
ClinVar RCV Id:
RCV002635968
dbSNP Id:
rs1255120819
gnomAD v2:
15-78423530-C-T
gnomAD v4:
15-78131188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78131188C>T , CM000677.2:g.78131188C>T | GRCh38 |
| NC_000015.9:g.78423530C>T , CM000677.1:g.78423530C>T | GRCh37 |
| NC_000015.8:g.76210585C>T | NCBI36 |
| NG_033006.1:g.5348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258930.8:c.28G>A MANE Select | ENSP00000258930.3:p.Glu10Lys | |
| ENST00000258930.7:c.28G>A | ENSP00000258930.3:p.Glu10Lys | |
| ENST00000539011.5:c.-67G>A | ENSP00000442459.1:n.-67G>A | |
| ENST00000557846.5:c.28G>A | ENSP00000453488.1:p.Glu10Lys | |
| ENST00000557917.5:c.28G>A | ENSP00000453963.1:p.Glu10Lys | |
| ENST00000559054.1:c.-196G>A | ENSP00000453377.1:n.-196G>A | |
| ENST00000559645.1:c.28G>A | ENSP00000452980.1:p.Glu10Lys | |
| ENST00000560618.5:c.-67G>A | ENSP00000452752.1:n.-67G>A | |
| ENST00000561190.5:c.28G>A | ENSP00000453256.1:p.Glu10Lys | |
| NM_001271888.1:c.-67G>A | NP_001258817.1:n.-67G>A | |
| NM_001271889.1:c.28G>A | NP_001258818.1:p.Glu10Lys | |
| NM_001301224.1:c.28G>A | NP_001288153.1:p.Glu10Lys | |
| NM_006383.3:c.28G>A | NP_006374.1:p.Glu10Lys | |
| NR_125435.1:n.348G>A | ||
| XM_005254126.2:c.28G>A | XP_005254183.1:p.Glu10Lys | |
| XM_006720374.2:c.-196G>A | XP_006720437.1:n.-196G>A | |
| XM_011522324.1:c.86-8C>T | XP_011520626.1:n.86-8C>T | |
| XM_005254126.3:c.28G>A | XP_005254183.1:p.Glu10Lys | |
| XR_001751051.1:n.789G>A | ||
| NM_001271888.2:c.-67G>A | NP_001258817.1:n.-67G>A | |
| NM_001271889.2:c.28G>A | NP_001258818.1:p.Glu10Lys | |
| NM_001301224.2:c.28G>A | NP_001288153.1:p.Glu10Lys | |
| NM_006383.4:c.28G>A MANE Select | NP_006374.1:p.Glu10Lys | |
| NR_125435.2:n.348G>A |