Linked Data
ClinVar Variation Id:
1663961
ClinVar RCV Id:
RCV002200716
dbSNP Id:
rs374951133
ExAC:
15:89866762 A / T
gnomAD v2:
15-89866762-A-T
gnomAD v3:
15-89323531-A-T
gnomAD v4:
15-89323531-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323531A>T , CM000677.2:g.89323531A>T | GRCh38 |
| NC_000015.9:g.89866762A>T , CM000677.1:g.89866762A>T | GRCh37 |
| NC_000015.8:g.87667766A>T | NCBI36 |
| NG_008218.1:g.16265T>A | |
| NG_008218.2:g.16265T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2158-20T>A | ENSP00000516154.1:n.2158-20T>A | |
| ENST00000268124.11:c.2158-20T>A MANE Select | ENSP00000268124.5:n.2158-20T>A | |
| ENST00000530292.3:c.1759-20T>A | ENSP00000432885.2:n.1759-20T>A | |
| ENST00000635986.2:c.2158-20T>A | ENSP00000490653.2:n.2158-20T>A | |
| ENST00000636774.1:c.*725-20T>A | ENSP00000489799.1:n.*725-20T>A | |
| ENST00000637238.1:c.855-20T>A | ENSP00000490756.1:n.855-20T>A | |
| ENST00000637264.1:c.1230-20T>A | ||
| ENST00000666746.1:c.1735-20T>A | ||
| ENST00000670281.1:c.478-20T>A | ENSP00000499709.1:n.478-20T>A | |
| ENST00000672071.1:n.2356-20T>A | ||
| ENST00000672923.2:n.2261-20T>A | ||
| ENST00000268124.9:c.2158-20T>A | ENSP00000268124.5:n.2158-20T>A | |
| ENST00000442287.6:c.2158-20T>A | ENSP00000399851.2:n.2158-20T>A | |
| ENST00000526314.2:c.539+284T>A | ||
| ENST00000526398.1:c.307-20T>A | ||
| ENST00000526573.1:n.527T>A | ||
| ENST00000532584.5:n.360-20T>A | ||
| ENST00000533857.1:n.556T>A | ||
| ENST00000631044.2:c.*1562T>A | ENSP00000486730.1:n.*1562T>A | |
| NM_001126131.1:c.2158-20T>A | NP_001119603.1:n.2158-20T>A | |
| NM_002693.2:c.2158-20T>A | NP_002684.1:n.2158-20T>A | |
| NM_001126131.2:c.2158-20T>A | NP_001119603.1:n.2158-20T>A | |
| NM_002693.3:c.2158-20T>A MANE Select | NP_002684.1:n.2158-20T>A |