Linked Data
ClinVar Variation Id:
2690972
ClinVar RCV Id:
RCV003991633
dbSNP Id:
rs2030421919
gnomAD v3:
16-89935404-G-A
gnomAD v4:
16-89935404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935404G>A , CM000678.2:g.89935404G>A | GRCh38 |
| NC_000016.9:g.90001812G>A , CM000678.1:g.90001812G>A | GRCh37 |
| NC_000016.8:g.88529313G>A | NCBI36 |
| NG_027810.1:g.18396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.953G>A MANE Select | ENSP00000320295.7:p.Arg318Gln | |
| ENST00000680788.1:n.4374G>A | ||
| ENST00000315491.11:c.953G>A | ENSP00000320295.7:p.Arg318Gln | |
| ENST00000554444.5:c.737G>A | ENSP00000451617.1:p.Arg246Gln | |
| ENST00000555576.5:c.277+1826G>A | ENSP00000452554.1:n.277+1826G>A | |
| ENST00000555609.5:c.*1038G>A | ENSP00000451276.1:n.*1038G>A | |
| ENST00000556922.1:c.1994G>A | ENSP00000451560.1:p.Arg665Gln | |
| NM_001197181.1:c.737G>A | NP_001184110.1:p.Arg246Gln | |
| NM_006086.3:c.953G>A | NP_006077.2:p.Arg318Gln | |
| NM_006086.4:c.953G>A MANE Select | NP_006077.2:p.Arg318Gln | |
| NM_001197181.2:c.737G>A | NP_001184110.1:p.Arg246Gln |