Linked Data
ClinVar Variation Id:
1568875
ClinVar RCV Id:
RCV002213148
dbSNP Id:
rs2143539338
MyVariant Identifiers:
chr17:g.12896195C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992878C>T , CM000679.2:g.12992878C>T | GRCh38 |
| NC_000017.10:g.12896195C>T , CM000679.1:g.12896195C>T | GRCh37 |
| NC_000017.9:g.12836920C>T | NCBI36 |
| NG_015808.1:g.30187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2421G>A MANE Select | ENSP00000337445.4:p.Glu807= | |
| ENST00000338034.8:c.2421G>A | ENSP00000337445.4:p.Glu807= | |
| ENST00000395962.6:c.2364G>A | ENSP00000379291.1:p.Glu788= | |
| ENST00000426905.7:c.2301G>A | ENSP00000405223.3:p.Glu767= | |
| ENST00000465825.5:n.2308G>A | ||
| ENST00000480891.5:n.2250G>A | ||
| ENST00000484122.5:n.3251G>A | ||
| ENST00000487229.6:n.1967G>A | ||
| ENST00000584650.5:c.1820G>A | ||
| NM_001165962.1:c.2301G>A | NP_001159434.1:p.Glu767= | |
| NM_018127.6:c.2421G>A | NP_060597.4:p.Glu807= | |
| NM_173717.1:c.2418G>A | NP_776065.1:p.Glu806= | |
| XM_024450850.1:c.2580G>A | XP_024306618.1:p.Glu860= | |
| XM_024450851.1:c.2502G>A | XP_024306619.1:p.Glu834= | |
| XM_024450852.1:c.2499G>A | XP_024306620.1:p.Glu833= | |
| XM_024450853.1:c.2496G>A | XP_024306621.1:p.Glu832= | |
| XM_024450854.1:c.2460G>A | XP_024306622.1:p.Glu820= | |
| XM_024450855.1:c.2379G>A | XP_024306623.1:p.Glu793= | |
| XM_024450856.1:c.2298G>A | XP_024306624.1:p.Glu766= | |
| XM_024450857.1:c.2298G>A | XP_024306625.1:p.Glu766= | |
| XM_024450858.1:c.2217G>A | XP_024306626.1:p.Glu739= | |
| XM_024450859.1:c.2214G>A | XP_024306627.1:p.Glu738= | |
| XM_024450860.1:c.2139G>A | XP_024306628.1:p.Glu713= | |
| XM_024450861.1:c.2139G>A | XP_024306629.1:p.Glu713= | |
| XM_024450862.1:c.2136G>A | XP_024306630.1:p.Glu712= | |
| NM_018127.7:c.2421G>A MANE Select | NP_060597.4:p.Glu807= | |
| NM_001165962.2:c.2301G>A | NP_001159434.1:p.Glu767= | |
| NM_173717.2:c.2418G>A | NP_776065.1:p.Glu806= |