Linked Data
ClinVar Variation Id:
325232
dbSNP Id:
rs149825190
ExAC:
17:73758832 G / A
gnomAD v2:
17-73758832-G-A
gnomAD v3:
17-75762751-G-A
gnomAD v4:
17-75762751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75762751G>A , CM000679.2:g.75762751G>A | GRCh38 |
| NC_000017.10:g.73758832G>A , CM000679.1:g.73758832G>A | GRCh37 |
| NC_000017.9:g.71270427G>A | NCBI36 |
| NG_008079.1:g.7449C>T | |
| NG_008079.2:g.7449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.778C>T | ENSP00000468341.2:n.778C>T | |
| ENST00000592997.6:c.656C>T | ENSP00000464765.2:p.Ala219Val | |
| ENST00000588479.6:c.746C>T MANE Select | ENSP00000465930.1:p.Ala249Val | |
| ENST00000225614.6:c.746C>T | ENSP00000225614.1:p.Ala249Val | |
| ENST00000587707.1:c.532C>T | ENSP00000468341.1:n.532C>T | |
| ENST00000588479.5:c.746C>T | ENSP00000465930.1:p.Ala249Val | |
| ENST00000592494.1:n.1065C>T | ||
| ENST00000592997.5:c.122C>T | ENSP00000464765.1:p.Ala41Val | |
| NM_000154.1:c.746C>T | NP_000145.1:p.Ala249Val | |
| NM_000154.2:c.746C>T MANE Select | NP_000145.1:p.Ala249Val | |
| NM_001381985.1:c.746C>T | NP_001368914.1:p.Ala249Val |