Linked Data
ClinVar Variation Id:
468802
ClinVar RCV Id:
RCV000532253
dbSNP Id:
rs1238094530
gnomAD v2:
15-38643504-G-A
gnomAD v4:
15-38351303-G-A
COSMIC:
COSM5849037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351303G>A , CM000677.2:g.38351303G>A | GRCh38 |
| NC_000015.9:g.38643504G>A , CM000677.1:g.38643504G>A | GRCh37 |
| NC_000015.8:g.36430796G>A | NCBI36 |
| NG_008980.1:g.103453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.974G>A MANE Select | ENSP00000299084.4:p.Arg325Gln | |
| ENST00000299084.8:c.974G>A | ENSP00000299084.4:p.Arg325Gln | |
| NM_152594.2:c.974G>A | NP_689807.1:p.Arg325Gln | |
| XM_005254202.2:c.1010G>A | XP_005254259.1:p.Arg337Gln | |
| XM_005254203.3:c.752G>A | XP_005254260.1:p.Arg251Gln | |
| XM_011521288.1:c.911G>A | XP_011519590.1:p.Arg304Gln | |
| XM_011521289.1:c.911G>A | XP_011519591.1:p.Arg304Gln | |
| XM_011521290.1:c.911G>A | XP_011519592.1:p.Arg304Gln | |
| XM_005254202.3:c.1010G>A | XP_005254259.1:p.Arg337Gln | |
| XM_011521289.3:c.911G>A | XP_011519591.1:p.Arg304Gln | |
| NM_152594.3:c.974G>A MANE Select | NP_689807.1:p.Arg325Gln |