Linked Data
ClinVar Variation Id:
219254
ClinVar RCV Id:
RCV000203610
dbSNP Id:
rs864321714
gnomAD v4:
16-89933486-G-A
PubMed:
PMID:20301522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89933486G>A , CM000678.2:g.89933486G>A | GRCh38 |
| NC_000016.9:g.89999894G>A , CM000678.1:g.89999894G>A | GRCh37 |
| NC_000016.8:g.88527395G>A | NCBI36 |
| NG_027810.1:g.16478G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315491.12:c.185G>A MANE Select | ENSP00000320295.7:p.Arg62Gln | |
| ENST00000680647.1:n.2434G>A | ||
| ENST00000680788.1:n.3606G>A | ||
| ENST00000315491.11:c.185G>A | ENSP00000320295.7:p.Arg62Gln | |
| ENST00000553656.5:c.*168G>A | ENSP00000452001.1:n.*168G>A | |
| ENST00000553967.1:c.185G>A | ENSP00000450765.1:p.Arg62Gln | |
| ENST00000554336.5:c.185G>A | ENSP00000450822.1:p.Arg62Gln | |
| ENST00000554444.5:c.-32G>A | ENSP00000451617.1:n.-32G>A | |
| ENST00000555576.5:c.185G>A | ENSP00000452554.1:p.Arg62Gln | |
| ENST00000555609.5:c.*270G>A | ENSP00000451276.1:n.*270G>A | |
| ENST00000555810.5:c.-32G>A | ENSP00000450538.1:n.-32G>A | |
| ENST00000556536.5:c.185G>A | ENSP00000451378.1:p.Arg62Gln | |
| ENST00000556565.5:c.-32G>A | ENSP00000452166.1:n.-32G>A | |
| ENST00000556922.1:c.1226G>A | ENSP00000451560.1:p.Arg409Gln | |
| ENST00000557262.5:c.*168G>A | ENSP00000451985.1:n.*168G>A | |
| ENST00000557490.5:c.*150G>A | ENSP00000451465.1:n.*150G>A | |
| ENST00000625617.2:c.185G>A | ENSP00000485859.1:p.Arg62Gln | |
| NM_001197181.1:c.-32G>A | NP_001184110.1:n.-32G>A | |
| NM_006086.3:c.185G>A | NP_006077.2:p.Arg62Gln | |
| NM_006086.4:c.185G>A MANE Select | NP_006077.2:p.Arg62Gln | |
| NM_001197181.2:c.-32G>A | NP_001184110.1:n.-32G>A |