Linked Data
ClinVar Variation Id:
325234
ClinVar RCV Id:
RCV000373236
dbSNP Id:
rs779996721
ExAC:
17:73761047 C / T
gnomAD v2:
17-73761047-C-T
gnomAD v3:
17-75764966-C-T
gnomAD v4:
17-75764966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75764966C>T , CM000679.2:g.75764966C>T | GRCh38 |
| NC_000017.10:g.73761047C>T , CM000679.1:g.73761047C>T | GRCh37 |
| NC_000017.9:g.71272642C>T | NCBI36 |
| NG_008079.1:g.5234G>A | |
| NG_008079.2:g.5234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.165+6G>A | ENSP00000468341.2:n.165+6G>A | |
| ENST00000592997.6:c.165+6G>A | ENSP00000464765.2:n.165+6G>A | |
| ENST00000588479.6:c.165+6G>A MANE Select | ENSP00000465930.1:n.165+6G>A | |
| ENST00000225614.6:c.165+6G>A | ENSP00000225614.1:n.165+6G>A | |
| ENST00000586244.1:c.165+6G>A | ENSP00000468288.1:n.165+6G>A | |
| ENST00000588479.5:c.165+6G>A | ENSP00000465930.1:n.165+6G>A | |
| ENST00000589030.1:n.162+6G>A | ||
| ENST00000592494.1:n.186+6G>A | ||
| NM_000154.1:c.165+6G>A | NP_000145.1:n.165+6G>A | |
| NM_000154.2:c.165+6G>A MANE Select | NP_000145.1:n.165+6G>A | |
| NM_001381985.1:c.165+6G>A | NP_001368914.1:n.165+6G>A |