Linked Data
ClinVar Variation Id:
1284688
ClinVar RCV Id:
RCV001699868
dbSNP Id:
rs372329290
gnomAD v3:
15-84839707-G-A
gnomAD v4:
15-84839707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839707G>A , CM000677.2:g.84839707G>A | GRCh38 |
| NC_000015.9:g.85382938G>A , CM000677.1:g.85382938G>A | GRCh37 |
| NC_000015.8:g.83183942G>A | NCBI36 |
| NG_054748.1:g.28077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258888.6:c.428G>A MANE Select | ENSP00000258888.6:p.Arg143Gln | |
| ENST00000258888.5:c.1034G>A | ENSP00000258888.5:p.Arg345Gln | |
| NM_020778.4:c.1034G>A | NP_065829.3:p.Arg345Gln | |
| NM_020778.5:c.428G>A MANE Select | NP_065829.4:p.Arg143Gln |