Linked Data
ClinVar Variation Id:
1634
dbSNP Id:
rs118204016
ExAC:
17:7127303 G / A
gnomAD v2:
17-7127303-G-A
gnomAD v3:
17-7223984-G-A
gnomAD v4:
17-7223984-G-A
ERepo:
CA251910/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223984G>A , CM000679.2:g.7223984G>A | GRCh38 |
| NC_000017.10:g.7127303G>A , CM000679.1:g.7127303G>A | GRCh37 |
| NC_000017.9:g.7068027G>A | NCBI36 |
| NG_007975.1:g.9151G>A | |
| NG_008391.2:g.1067C>T | |
| NG_033038.1:g.15561C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1349G>A MANE Select | ENSP00000349297.5:p.Arg450His | |
| ENST00000322910.9:c.*1304G>A | ENSP00000325395.5:n.*1304G>A | |
| ENST00000350303.9:c.1283G>A | ENSP00000344152.5:p.Arg428His | |
| ENST00000356839.9:c.1349G>A | ENSP00000349297.5:p.Arg450His | |
| ENST00000542255.6:c.207G>A | ||
| ENST00000543245.6:c.1418G>A | ENSP00000438689.2:p.Arg473His | |
| ENST00000578711.1:n.480G>A | ||
| ENST00000579425.5:n.465G>A | ||
| ENST00000579546.1:c.186G>A | ||
| ENST00000579894.5:n.60G>A | ||
| ENST00000583074.5:n.68G>A | ||
| ENST00000583850.5:n.124G>A | ||
| ENST00000583858.5:c.378G>A | ||
| ENST00000585203.6:n.540G>A | ||
| NM_000018.3:c.1349G>A | NP_000009.1:p.Arg450His | |
| NM_001033859.2:c.1283G>A | NP_001029031.1:p.Arg428His | |
| NM_001270447.1:c.1418G>A | NP_001257376.1:p.Arg473His | |
| NM_001270448.1:c.1121G>A | NP_001257377.1:p.Arg374His | |
| XM_006721516.2:c.1349G>A | XP_006721579.2:p.Arg450His | |
| XM_011523829.1:c.1349G>A | XP_011522131.1:p.Arg450His | |
| XM_011523830.1:c.1349G>A | XP_011522132.1:p.Arg450His | |
| XR_934021.1:n.1456G>A | ||
| XR_934022.1:n.1456G>A | ||
| XR_934023.1:n.1456G>A | ||
| XM_006721516.3:c.1349G>A | XP_006721579.2:p.Arg450His | |
| XM_011523829.2:c.1349G>A | XP_011522131.1:p.Arg450His | |
| XM_011523830.2:c.1349G>A | XP_011522132.1:p.Arg450His | |
| XM_024450741.1:c.1349G>A | XP_024306509.1:p.Arg450His | |
| XR_934021.2:n.1408G>A | ||
| XR_934022.2:n.1408G>A | ||
| XR_934023.2:n.1408G>A | ||
| NM_000018.4:c.1349G>A MANE Select | NP_000009.1:p.Arg450His | |
| NM_001033859.3:c.1283G>A | NP_001029031.1:p.Arg428His | |
| NM_001270447.2:c.1418G>A | NP_001257376.1:p.Arg473His | |
| NM_001270448.2:c.1121G>A | NP_001257377.1:p.Arg374His |