Linked Data
ClinVar Variation Id:
2027251
ClinVar RCV Id:
RCV002866531
dbSNP Id:
rs762470485
gnomAD v3:
19-853279-G-A
gnomAD v4:
19-853279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853279G>A , CM000681.2:g.853279G>A | GRCh38 |
| NC_000019.9:g.853279G>A , CM000681.1:g.853279G>A | GRCh37 |
| NC_000019.8:g.804279G>A | NCBI36 |
| NG_009627.1:g.5989G>A , LRG_57:g.5989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.242G>A MANE Select | ENSP00000263621.1:p.Arg81Gln | |
| ENST00000263621.1:c.242G>A | ENSP00000263621.1:p.Arg81Gln | |
| ENST00000590230.5:c.242G>A | ENSP00000466090.1:p.Arg81Gln | |
| NM_001972.2:c.242G>A , LRG_57t1:c.242G>A | NP_001963.1:p.Arg81Gln | |
| XM_011527775.1:c.242G>A | XP_011526077.1:p.Arg81Gln | |
| XM_011527776.1:c.242G>A | XP_011526078.1:p.Arg81Gln | |
| NM_001972.3:c.242G>A | NP_001963.1:p.Arg81Gln | |
| NM_001972.4:c.242G>A MANE Select | NP_001963.1:p.Arg81Gln |