Linked Data
ClinVar Variation Id:
374123
dbSNP Id:
rs138058572
ExAC:
17:7127312 G / A
gnomAD v2:
17-7127312-G-A
gnomAD v3:
17-7223993-G-A
gnomAD v4:
17-7223993-G-A
ERepo:
CA8338089/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223993G>A , CM000679.2:g.7223993G>A | GRCh38 |
| NC_000017.10:g.7127312G>A , CM000679.1:g.7127312G>A | GRCh37 |
| NC_000017.9:g.7068036G>A | NCBI36 |
| NG_007975.1:g.9160G>A | |
| NG_008391.2:g.1058C>T | |
| NG_033038.1:g.15552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1358G>A MANE Select | ENSP00000349297.5:p.Arg453Gln | |
| ENST00000322910.9:c.*1313G>A | ENSP00000325395.5:n.*1313G>A | |
| ENST00000350303.9:c.1292G>A | ENSP00000344152.5:p.Arg431Gln | |
| ENST00000356839.9:c.1358G>A | ENSP00000349297.5:p.Arg453Gln | |
| ENST00000542255.6:c.216G>A | ||
| ENST00000543245.6:c.1427G>A | ENSP00000438689.2:p.Arg476Gln | |
| ENST00000578711.1:n.489G>A | ||
| ENST00000579425.5:n.474G>A | ||
| ENST00000579546.1:c.195G>A | ||
| ENST00000579894.5:n.69G>A | ||
| ENST00000583074.5:n.77G>A | ||
| ENST00000583850.5:n.133G>A | ||
| ENST00000583858.5:c.387G>A | ||
| ENST00000585203.6:n.549G>A | ||
| NM_000018.3:c.1358G>A | NP_000009.1:p.Arg453Gln | |
| NM_001033859.2:c.1292G>A | NP_001029031.1:p.Arg431Gln | |
| NM_001270447.1:c.1427G>A | NP_001257376.1:p.Arg476Gln | |
| NM_001270448.1:c.1130G>A | NP_001257377.1:p.Arg377Gln | |
| XM_006721516.2:c.1358G>A | XP_006721579.2:p.Arg453Gln | |
| XM_011523829.1:c.1358G>A | XP_011522131.1:p.Arg453Gln | |
| XM_011523830.1:c.1358G>A | XP_011522132.1:p.Arg453Gln | |
| XR_934021.1:n.1465G>A | ||
| XR_934022.1:n.1465G>A | ||
| XR_934023.1:n.1465G>A | ||
| XM_006721516.3:c.1358G>A | XP_006721579.2:p.Arg453Gln | |
| XM_011523829.2:c.1358G>A | XP_011522131.1:p.Arg453Gln | |
| XM_011523830.2:c.1358G>A | XP_011522132.1:p.Arg453Gln | |
| XM_024450741.1:c.1358G>A | XP_024306509.1:p.Arg453Gln | |
| XR_934021.2:n.1417G>A | ||
| XR_934022.2:n.1417G>A | ||
| XR_934023.2:n.1417G>A | ||
| NM_000018.4:c.1358G>A MANE Select | NP_000009.1:p.Arg453Gln | |
| NM_001033859.3:c.1292G>A | NP_001029031.1:p.Arg431Gln | |
| NM_001270447.2:c.1427G>A | NP_001257376.1:p.Arg476Gln | |
| NM_001270448.2:c.1130G>A | NP_001257377.1:p.Arg377Gln |