Linked Data
ClinVar Variation Id:
12469
dbSNP Id:
rs121964846
ExAC:
12:6978464 G / A
gnomAD v2:
12-6978464-G-A
gnomAD v3:
12-6869300-G-A
gnomAD v4:
12-6869300-G-A
PubMed:
PMID:1339398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6869300G>A , CM000674.2:g.6869300G>A | GRCh38 |
| NC_000012.11:g.6978464G>A , CM000674.1:g.6978464G>A | GRCh37 |
| NC_000012.10:g.6848725G>A | NCBI36 |
| NG_011948.1:g.6881G>A | |
| NG_013308.1:g.9058C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396705.10:c.367G>A MANE Select | ENSP00000379933.4:p.Gly123Arg | |
| ENST00000229270.8:c.478G>A | ENSP00000229270.4:p.Gly160Arg | |
| ENST00000396705.9:c.367G>A | ENSP00000379933.4:p.Gly123Arg | |
| ENST00000488464.6:c.121G>A | ENSP00000475620.1:p.Gly41Arg | |
| ENST00000493987.5:c.121G>A | ENSP00000475364.1:p.Gly41Arg | |
| ENST00000495834.1:c.121G>A | ENSP00000475829.1:p.Gly41Arg | |
| ENST00000535434.5:c.121G>A | ENSP00000443599.1:p.Gly41Arg | |
| ENST00000613953.4:c.478G>A | ENSP00000484435.1:p.Gly160Arg | |
| NM_000365.5:c.367G>A | NP_000356.1:p.Gly123Arg | |
| NM_001159287.1:c.478G>A | NP_001152759.1:p.Gly160Arg | |
| NM_001258026.1:c.121G>A | NP_001244955.1:p.Gly41Arg | |
| XR_002957378.1:n.1100G>A | ||
| NM_000365.6:c.367G>A MANE Select | NP_000356.1:p.Gly123Arg | |
| NM_001258026.2:c.121G>A | NP_001244955.1:p.Gly41Arg |