Linked Data
ClinVar Variation Id:
454869
dbSNP Id:
rs201059622
ExAC:
7:780463 G / A
gnomAD v2:
7-780463-G-A
gnomAD v3:
7-740826-G-A
gnomAD v4:
7-740826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.740826G>A , CM000669.2:g.740826G>A | GRCh38 |
| NC_000007.13:g.780463G>A , CM000669.1:g.780463G>A | GRCh37 |
| NC_000007.12:g.746989G>A | NCBI36 |
| NG_033137.1:g.19126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.788G>A MANE Select | ENSP00000297440.6:p.Arg263Gln | |
| ENST00000297440.10:c.788G>A | ENSP00000297440.6:p.Arg263Gln | |
| ENST00000437419.5:c.105G>A | ||
| ENST00000438961.1:n.257G>A | ||
| ENST00000440747.5:c.192G>A | ||
| NM_017802.3:c.788G>A | NP_060272.3:p.Arg263Gln | |
| NR_075098.1:n.746G>A | ||
| XM_024446813.1:c.788G>A | XP_024302581.1:p.Arg263Gln | |
| XM_024446814.1:c.182G>A | XP_024302582.1:p.Arg61Gln | |
| NM_017802.4:c.788G>A MANE Select | NP_060272.3:p.Arg263Gln | |
| NR_075098.2:n.748G>A |