Linked Data
ClinVar Variation Id:
161436
dbSNP Id:
rs200848306
ExAC:
7:31009494 G / A
gnomAD v2:
7-31009494-G-A
gnomAD v3:
7-30969879-G-A
gnomAD v4:
7-30969879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30969879G>A , CM000669.2:g.30969879G>A | GRCh38 |
| NC_000007.13:g.31009494G>A , CM000669.1:g.31009494G>A | GRCh37 |
| NC_000007.12:g.30976019G>A | NCBI36 |
| NG_021416.1:g.10859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.281G>A MANE Select | ENSP00000320180.2:p.Arg94Gln | |
| ENST00000326139.6:c.281G>A | ENSP00000320180.2:p.Arg94Gln | |
| ENST00000337750.9:c.89G>A | ENSP00000338184.4:p.Arg30Gln | |
| ENST00000396227.6:c.89G>A | ENSP00000379529.2:p.Arg30Gln | |
| ENST00000409316.5:c.-267G>A | ENSP00000386602.1:n.-267G>A | |
| ENST00000409904.7:c.89G>A | ENSP00000387113.3:p.Arg30Gln | |
| NM_000823.3:c.281G>A | NP_000814.2:p.Arg94Gln | |
| XM_011515263.1:c.89G>A | XP_011513565.1:p.Arg30Gln | |
| NM_000823.4:c.281G>A MANE Select | NP_000814.2:p.Arg94Gln |