Linked Data
dbSNP Id:
rs1464920989
gnomAD v2:
11-88911692-G-A
gnomAD v3:
11-89178524-G-A
gnomAD v4:
11-89178524-G-A
COSMIC:
COSM5932923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178524G>A , CM000673.2:g.89178524G>A | GRCh38 |
| NC_000011.9:g.88911692G>A , CM000673.1:g.88911692G>A | GRCh37 |
| NC_000011.8:g.88551340G>A | NCBI36 |
| NG_008748.1:g.5653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.571G>A MANE Select | ENSP00000263321.4:p.Gly191Arg | |
| ENST00000263321.5:c.571G>A | ENSP00000263321.4:p.Gly191Arg | |
| ENST00000526139.1:n.632G>A | ||
| NM_000372.4:c.571G>A | NP_000363.1:p.Gly191Arg | |
| XM_011542970.1:c.571G>A | XP_011541272.1:p.Gly191Arg | |
| XM_011542970.2:c.571G>A | XP_011541272.1:p.Gly191Arg | |
| XR_001748321.1:n.2718-64991C>T | ||
| XR_001748322.1:n.2733-64991C>T | ||
| NM_000372.5:c.571G>A MANE Select | NP_000363.1:p.Gly191Arg |