Linked Data
ClinVar Variation Id:
318556
dbSNP Id:
rs201929423
ExAC:
16:23563502 G / T
gnomAD v2:
16-23563502-G-T
gnomAD v3:
16-23552181-G-T
gnomAD v4:
16-23552181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23552181G>T , CM000678.2:g.23552181G>T | GRCh38 |
| NC_000016.9:g.23563502G>T , CM000678.1:g.23563502G>T | GRCh37 |
| NC_000016.8:g.23471003G>T | NCBI36 |
| NG_027752.1:g.10195C>A | |
| NG_027752.2:g.10195C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.263C>A MANE Select | ENSP00000395196.2:p.Ala88Glu | |
| ENST00000674054.1:c.263C>A | ENSP00000501251.1:p.Ala88Glu | |
| ENST00000449606.5:c.263C>A | ENSP00000395196.1:p.Ala88Glu | |
| ENST00000561859.5:n.270C>A | ||
| ENST00000562581.5:c.*136C>A | ENSP00000455519.1:n.*136C>A | |
| ENST00000563232.1:c.263C>A | ENSP00000456218.1:p.Ala88Glu | |
| ENST00000563459.5:c.263C>A | ENSP00000456467.1:p.Ala88Glu | |
| ENST00000564461.5:n.447C>A | ||
| ENST00000564501.5:c.263C>A | ENSP00000457107.1:p.Ala88Glu | |
| ENST00000564668.5:c.*43C>A | ENSP00000455789.1:n.*43C>A | |
| ENST00000564997.1:c.*140C>A | ENSP00000455875.1:n.*140C>A | |
| NM_001083614.1:c.263C>A | NP_001077083.1:p.Ala88Glu | |
| NM_001308211.1:c.263C>A | NP_001295140.1:p.Ala88Glu | |
| NR_003501.1:n.295C>A | ||
| XM_011545738.1:c.191C>A | XP_011544040.1:p.Ala64Glu | |
| XM_011545739.1:c.-17C>A | XP_011544041.1:n.-17C>A | |
| XR_001751841.1:n.585C>A | ||
| NM_001083614.2:c.263C>A MANE Select | NP_001077083.1:p.Ala88Glu | |
| NR_003501.2:n.270C>A |