Linked Data
ClinVar Variation Id:
684458
ClinVar RCV Id:
RCV000844924
dbSNP Id:
rs1578111487
gnomAD v4:
4-88008101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008101G>A , CM000666.2:g.88008101G>A | GRCh38 |
| NC_000004.11:g.88929253G>A , CM000666.1:g.88929253G>A | GRCh37 |
| NC_000004.10:g.89148277G>A | NCBI36 |
| NG_008604.1:g.5434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.368G>A MANE Select | ENSP00000237596.2:p.Arg123Gln | |
| ENST00000237596.6:c.368G>A | ENSP00000237596.2:p.Arg123Gln | |
| NM_000297.3:c.368G>A | NP_000288.1:p.Arg123Gln | |
| XM_011532028.1:c.368G>A | XP_011530330.1:p.Arg123Gln | |
| XR_244632.2:n.463G>A | ||
| NR_156488.1:n.455G>A | ||
| XM_011532028.2:c.368G>A | XP_011530330.1:p.Arg123Gln | |
| NM_000297.4:c.368G>A MANE Select | NP_000288.1:p.Arg123Gln | |
| NR_156488.2:n.467G>A |