Linked Data
ClinVar Variation Id:
2036109
ClinVar RCV Id:
RCV002894716
dbSNP Id:
rs2055533288
gnomAD v4:
15-89327149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327149C>T , CM000677.2:g.89327149C>T | GRCh38 |
| NC_000015.9:g.89870380C>T , CM000677.1:g.89870380C>T | GRCh37 |
| NC_000015.8:g.87671384C>T | NCBI36 |
| NG_008218.1:g.12647G>A | |
| NG_008218.2:g.12647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1433+18G>A | ENSP00000516154.1:n.1433+18G>A | |
| ENST00000268124.11:c.1433+18G>A MANE Select | ENSP00000268124.5:n.1433+18G>A | |
| ENST00000530292.3:c.1034+18G>A | ENSP00000432885.2:n.1034+18G>A | |
| ENST00000635986.2:c.1433+18G>A | ENSP00000490653.2:n.1433+18G>A | |
| ENST00000636774.1:c.1433+18G>A | ENSP00000489799.1:n.1433+18G>A | |
| ENST00000637238.1:c.170+18G>A | ENSP00000490756.1:n.170+18G>A | |
| ENST00000637264.1:c.505+18G>A | ||
| ENST00000666746.1:c.1010+18G>A | ||
| ENST00000672071.1:n.1631+18G>A | ||
| ENST00000672923.2:n.1536+18G>A | ||
| ENST00000268124.9:c.1433+18G>A | ENSP00000268124.5:n.1433+18G>A | |
| ENST00000442287.6:c.1433+18G>A | ENSP00000399851.2:n.1433+18G>A | |
| ENST00000532363.2:n.309G>A | ||
| ENST00000631044.2:c.*816+18G>A | ENSP00000486730.1:n.*816+18G>A | |
| NM_001126131.1:c.1433+18G>A | NP_001119603.1:n.1433+18G>A | |
| NM_002693.2:c.1433+18G>A | NP_002684.1:n.1433+18G>A | |
| NM_001126131.2:c.1433+18G>A | NP_001119603.1:n.1433+18G>A | |
| NM_002693.3:c.1433+18G>A MANE Select | NP_002684.1:n.1433+18G>A |