Linked Data
ClinVar Variation Id:
2360313
ClinVar RCV Id:
RCV004201133
dbSNP Id:
rs768292421
ExAC:
15:89424918 C / T
gnomAD v2:
15-89424918-C-T
gnomAD v3:
15-88881687-C-T
gnomAD v4:
15-88881687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881687C>T , CM000677.2:g.88881687C>T | GRCh38 |
| NC_000015.9:g.89424918C>T , CM000677.1:g.89424918C>T | GRCh37 |
| NC_000015.8:g.87225922C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.163G>A MANE Select | ENSP00000352606.4:p.Glu55Lys | |
| ENST00000359595.7:c.163G>A | ENSP00000352606.3:p.Glu55Lys | |
| ENST00000558770.5:c.163G>A | ENSP00000456458.1:p.Glu55Lys | |
| ENST00000562281.1:c.163G>A | ENSP00000456985.1:p.Glu55Lys | |
| ENST00000562889.5:c.349G>A | ENSP00000457180.1:p.Glu117Lys | |
| ENST00000563808.1:n.265G>A | ||
| NM_001307952.1:c.349G>A | NP_001294881.1:p.Glu117Lys | |
| NM_178232.2:c.163G>A | NP_839946.1:p.Glu55Lys | |
| NM_178232.3:c.163G>A | NP_839946.1:p.Glu55Lys | |
| XM_011521261.1:c.295G>A | XP_011519563.1:p.Glu99Lys | |
| XR_243204.1:n.378G>A | ||
| XR_931756.1:n.484G>A | ||
| XM_017021934.2:c.349G>A | XP_016877423.1:p.Glu117Lys | |
| XM_017021935.2:c.-217G>A | XP_016877424.1:n.-217G>A | |
| XM_017021936.2:c.-217G>A | XP_016877425.1:n.-217G>A | |
| XR_001751098.2:n.496G>A | ||
| XR_931756.3:n.497G>A | ||
| NM_001307952.2:c.349G>A | NP_001294881.1:p.Glu117Lys | |
| NM_178232.4:c.163G>A MANE Select | NP_839946.1:p.Glu55Lys |