Linked Data
ClinVar Variation Id:
372401
ClinVar RCV Id:
RCV000414527
dbSNP Id:
rs1057517756
gnomAD v2:
18-7049181-G-A
gnomAD v3:
18-7049182-G-A
gnomAD v4:
18-7049182-G-A
COSMIC:
COSM6207260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7049182G>A , CM000680.2:g.7049182G>A | GRCh38 |
| NC_000018.9:g.7049181G>A , CM000680.1:g.7049181G>A | GRCh37 |
| NC_000018.8:g.7039181G>A | NCBI36 |
| NG_034251.1:g.73633C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389658.4:c.664C>T MANE Select | ENSP00000374309.3:p.Arg222Ter | |
| ENST00000389658.3:c.664C>T | ENSP00000374309.3:p.Arg222Ter | |
| ENST00000579014.5:n.703C>T | ||
| NM_005559.3:c.664C>T | NP_005550.2:p.Arg222Ter | |
| XM_011525655.1:c.664C>T | XP_011523957.1:p.Arg222Ter | |
| XM_011525657.1:c.664C>T | XP_011523959.1:p.Arg222Ter | |
| XM_011525655.2:c.664C>T | XP_011523957.1:p.Arg222Ter | |
| NM_005559.4:c.664C>T MANE Select | NP_005550.2:p.Arg222Ter |