Linked Data
ClinVar Variation Id:
13505
ClinVar RCV Id:
RCV000014456
RCV000020473
RCV000186576
RCV000193529
RCV000415307
RCV000408293
RCV000508752
RCV000427845
RCV001004602
RCV001610290
RCV001642226
RCV001813743
RCV001813986
RCV001847603
RCV002227034
RCV002313709
RCV002319424
RCV003458332
dbSNP Id:
rs113994096
ExAC:
15:89868870 G / A
gnomAD v2:
15-89868870-G-A
gnomAD v3:
15-89325639-G-A
gnomAD v4:
15-89325639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325639G>A , CM000677.2:g.89325639G>A | GRCh38 |
| NC_000015.9:g.89868870G>A , CM000677.1:g.89868870G>A | GRCh37 |
| NC_000015.8:g.87669874G>A | NCBI36 |
| NG_008218.1:g.14157C>T | |
| NG_008218.2:g.14157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1760C>T | ENSP00000516154.1:p.Pro587Leu | |
| ENST00000268124.11:c.1760C>T MANE Select | ENSP00000268124.5:p.Pro587Leu | |
| ENST00000530292.3:c.1361C>T | ENSP00000432885.2:p.Pro454Leu | |
| ENST00000635986.2:c.1760C>T | ENSP00000490653.2:p.Pro587Leu | |
| ENST00000636774.1:c.*327C>T | ENSP00000489799.1:n.*327C>T | |
| ENST00000637238.1:c.497C>T | ENSP00000490756.1:p.Pro166Leu | |
| ENST00000637264.1:c.832C>T | ||
| ENST00000666746.1:c.1337C>T | ||
| ENST00000670281.1:c.80C>T | ENSP00000499709.1:p.Pro27Leu | |
| ENST00000672071.1:n.1958C>T | ||
| ENST00000672923.2:n.1863C>T | ||
| ENST00000268124.9:c.1760C>T | ENSP00000268124.5:p.Pro587Leu | |
| ENST00000442287.6:c.1760C>T | ENSP00000399851.2:p.Pro587Leu | |
| ENST00000526314.2:c.142C>T | ||
| ENST00000631044.2:c.*1143C>T | ENSP00000486730.1:n.*1143C>T | |
| NM_001126131.1:c.1760C>T | NP_001119603.1:p.Pro587Leu | |
| NM_002693.2:c.1760C>T | NP_002684.1:p.Pro587Leu | |
| NM_001126131.2:c.1760C>T | NP_001119603.1:p.Pro587Leu | |
| NM_002693.3:c.1760C>T MANE Select | NP_002684.1:p.Pro587Leu |