Linked Data
ClinVar Variation Id:
2398787
ClinVar RCV Id:
RCV002763742
dbSNP Id:
rs1163281224
gnomAD v2:
16-31473965-G-A
gnomAD v3:
16-31462644-G-A
gnomAD v4:
16-31462644-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462644G>A , CM000678.2:g.31462644G>A | GRCh38 |
| NC_000016.9:g.31473965G>A , CM000678.1:g.31473965G>A | GRCh37 |
| NC_000016.8:g.31381466G>A | NCBI36 |
| NG_034258.1:g.9372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1097G>A MANE Select | ENSP00000268314.4:p.Arg366Gln | |
| ENST00000268314.8:c.1097G>A | ENSP00000268314.4:p.Arg366Gln | |
| ENST00000408912.7:c.1382G>A | ENSP00000386125.3:p.Arg461Gln | |
| ENST00000457010.6:c.1097G>A | ENSP00000399561.2:p.Arg366Gln | |
| ENST00000538189.5:c.605G>A | ENSP00000443995.2:p.Arg202Gln | |
| ENST00000563544.5:c.1097G>A | ENSP00000456877.1:p.Arg366Gln | |
| ENST00000564900.1:c.213-128G>A | ||
| NM_001105247.1:c.1097G>A | NP_001098717.1:p.Arg366Gln | |
| NM_001288767.1:c.1382G>A | NP_001275696.1:p.Arg461Gln | |
| NM_001301820.1:c.1193G>A | NP_001288749.1:p.Arg398Gln | |
| NM_024742.2:c.1097G>A | NP_079018.1:p.Arg366Gln | |
| XM_006721091.1:c.1193G>A | XP_006721154.1:p.Arg398Gln | |
| XM_006721091.3:c.1193G>A | XP_006721154.1:p.Arg398Gln | |
| XM_024450448.1:c.1193G>A | XP_024306216.1:p.Arg398Gln | |
| XM_024450449.1:c.1193G>A | XP_024306217.1:p.Arg398Gln | |
| NM_001105247.2:c.1097G>A MANE Select | NP_001098717.1:p.Arg366Gln | |
| NM_001288767.2:c.1382G>A | NP_001275696.1:p.Arg461Gln |