Linked Data
ClinVar Variation Id:
203585
dbSNP Id:
rs751995154
ExAC:
17:7127330 G / A
gnomAD v2:
17-7127330-G-A
gnomAD v3:
17-7224011-G-A
gnomAD v4:
17-7224011-G-A
ERepo:
CA312275/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224011G>A , CM000679.2:g.7224011G>A | GRCh38 |
| NC_000017.10:g.7127330G>A , CM000679.1:g.7127330G>A | GRCh37 |
| NC_000017.9:g.7068054G>A | NCBI36 |
| NG_007975.1:g.9178G>A | |
| NG_008391.2:g.1040C>T | |
| NG_033038.1:g.15534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1376G>A MANE Select | ENSP00000349297.5:p.Arg459Gln | |
| ENST00000322910.9:c.*1331G>A | ENSP00000325395.5:n.*1331G>A | |
| ENST00000350303.9:c.1310G>A | ENSP00000344152.5:p.Arg437Gln | |
| ENST00000356839.9:c.1376G>A | ENSP00000349297.5:p.Arg459Gln | |
| ENST00000542255.6:c.234G>A | ||
| ENST00000543245.6:c.1445G>A | ENSP00000438689.2:p.Arg482Gln | |
| ENST00000578711.1:n.507G>A | ||
| ENST00000579425.5:n.492G>A | ||
| ENST00000579546.1:c.213G>A | ||
| ENST00000579894.5:n.87G>A | ||
| ENST00000583074.5:n.95G>A | ||
| ENST00000583850.5:n.151G>A | ||
| ENST00000583858.5:c.405G>A | ||
| ENST00000585203.6:n.567G>A | ||
| NM_000018.3:c.1376G>A | NP_000009.1:p.Arg459Gln | |
| NM_001033859.2:c.1310G>A | NP_001029031.1:p.Arg437Gln | |
| NM_001270447.1:c.1445G>A | NP_001257376.1:p.Arg482Gln | |
| NM_001270448.1:c.1148G>A | NP_001257377.1:p.Arg383Gln | |
| XM_006721516.2:c.1376G>A | XP_006721579.2:p.Arg459Gln | |
| XM_011523829.1:c.1376G>A | XP_011522131.1:p.Arg459Gln | |
| XM_011523830.1:c.1376G>A | XP_011522132.1:p.Arg459Gln | |
| XR_934021.1:n.1483G>A | ||
| XR_934022.1:n.1483G>A | ||
| XR_934023.1:n.1483G>A | ||
| XM_006721516.3:c.1376G>A | XP_006721579.2:p.Arg459Gln | |
| XM_011523829.2:c.1376G>A | XP_011522131.1:p.Arg459Gln | |
| XM_011523830.2:c.1376G>A | XP_011522132.1:p.Arg459Gln | |
| XM_024450741.1:c.1376G>A | XP_024306509.1:p.Arg459Gln | |
| XR_934021.2:n.1435G>A | ||
| XR_934022.2:n.1435G>A | ||
| XR_934023.2:n.1435G>A | ||
| NM_000018.4:c.1376G>A MANE Select | NP_000009.1:p.Arg459Gln | |
| NM_001033859.3:c.1310G>A | NP_001029031.1:p.Arg437Gln | |
| NM_001270447.2:c.1445G>A | NP_001257376.1:p.Arg482Gln | |
| NM_001270448.2:c.1148G>A | NP_001257377.1:p.Arg383Gln |