Linked Data
ClinVar Variation Id:
891628
ClinVar RCV Id:
RCV001127040
dbSNP Id:
rs1240470839
gnomAD v2:
17-40688645-G-A
gnomAD v4:
17-42536627-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536627G>A , CM000679.2:g.42536627G>A | GRCh38 |
| NC_000017.10:g.40688645G>A , CM000679.1:g.40688645G>A | GRCh37 |
| NC_000017.9:g.37942171G>A | NCBI36 |
| NG_011552.1:g.5695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.355G>A MANE Select | ENSP00000225927.1:p.Gly119Arg | |
| ENST00000225927.6:c.355G>A | ENSP00000225927.1:p.Gly119Arg | |
| ENST00000586516.5:c.105G>A | ||
| ENST00000591587.1:c.98G>A | ENSP00000467836.1:p.Gly33Glu | |
| NM_000263.3:c.355G>A | NP_000254.2:p.Gly119Arg | |
| XM_006721920.2:c.-388G>A | XP_006721983.1:n.-388G>A | |
| XM_011524840.1:c.-388G>A | XP_011523142.1:n.-388G>A | |
| XM_024450771.1:c.355G>A | XP_024306539.1:p.Gly119Arg | |
| NM_000263.4:c.355G>A MANE Select | NP_000254.2:p.Gly119Arg |