Linked Data
ClinVar Variation Id:
617956
dbSNP Id:
rs754756970
ExAC:
17:7124864 G / A
gnomAD v2:
17-7124864-G-A
gnomAD v3:
17-7221545-G-A
gnomAD v4:
17-7221545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221545G>A , CM000679.2:g.7221545G>A | GRCh38 |
| NC_000017.10:g.7124864G>A , CM000679.1:g.7124864G>A | GRCh37 |
| NC_000017.9:g.7065588G>A | NCBI36 |
| NG_007975.1:g.6712G>A | |
| NG_008391.2:g.3506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.485G>A MANE Select | ENSP00000349297.5:p.Arg162His | |
| ENST00000322910.9:c.*440G>A | ENSP00000325395.5:n.*440G>A | |
| ENST00000350303.9:c.419G>A | ENSP00000344152.5:p.Arg140His | |
| ENST00000356839.9:c.485G>A | ENSP00000349297.5:p.Arg162His | |
| ENST00000543245.6:c.554G>A | ENSP00000438689.2:p.Arg185His | |
| ENST00000577191.5:n.562G>A | ||
| ENST00000577433.5:n.693G>A | ||
| ENST00000577857.5:n.301G>A | ||
| ENST00000579286.5:n.666G>A | ||
| ENST00000579886.2:c.323G>A | ENSP00000463246.1:p.Arg108His | |
| ENST00000580365.1:n.216G>A | ||
| ENST00000581378.5:c.203G>A | ||
| ENST00000581562.5:n.525-407G>A | ||
| ENST00000582166.1:n.466G>A | ||
| ENST00000583312.5:c.485G>A | ENSP00000467920.1:p.Arg162His | |
| ENST00000583760.1:n.267G>A | ||
| NM_000018.3:c.485G>A | NP_000009.1:p.Arg162His | |
| NM_001033859.2:c.419G>A | NP_001029031.1:p.Arg140His | |
| NM_001270447.1:c.554G>A | NP_001257376.1:p.Arg185His | |
| NM_001270448.1:c.257G>A | NP_001257377.1:p.Arg86His | |
| XM_006721516.2:c.485G>A | XP_006721579.2:p.Arg162His | |
| XM_011523829.1:c.485G>A | XP_011522131.1:p.Arg162His | |
| XM_011523830.1:c.485G>A | XP_011522132.1:p.Arg162His | |
| XR_934021.1:n.592G>A | ||
| XR_934022.1:n.592G>A | ||
| XR_934023.1:n.592G>A | ||
| XM_006721516.3:c.485G>A | XP_006721579.2:p.Arg162His | |
| XM_011523829.2:c.485G>A | XP_011522131.1:p.Arg162His | |
| XM_011523830.2:c.485G>A | XP_011522132.1:p.Arg162His | |
| XM_024450741.1:c.485G>A | XP_024306509.1:p.Arg162His | |
| XR_934021.2:n.544G>A | ||
| XR_934022.2:n.544G>A | ||
| XR_934023.2:n.544G>A | ||
| NM_000018.4:c.485G>A MANE Select | NP_000009.1:p.Arg162His | |
| NM_001033859.3:c.419G>A | NP_001029031.1:p.Arg140His | |
| NM_001270447.2:c.554G>A | NP_001257376.1:p.Arg185His | |
| NM_001270448.2:c.257G>A | NP_001257377.1:p.Arg86His |