Linked Data
ClinVar Variation Id:
2083212
ClinVar RCV Id:
RCV003002361
dbSNP Id:
rs769885223
ExAC:
17:7128343 G / A
gnomAD v2:
17-7128343-G-A
gnomAD v4:
17-7225024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225024G>A , CM000679.2:g.7225024G>A | GRCh38 |
| NC_000017.10:g.7128343G>A , CM000679.1:g.7128343G>A | GRCh37 |
| NC_000017.9:g.7069067G>A | NCBI36 |
| NG_007975.1:g.10191G>A | |
| NG_008391.2:g.27C>T | |
| NG_033038.1:g.14521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1895G>A MANE Select | ENSP00000349297.5:p.Arg632His | |
| ENST00000322910.9:c.*1850G>A | ENSP00000325395.5:n.*1850G>A | |
| ENST00000350303.9:c.1829G>A | ENSP00000344152.5:p.Arg610His | |
| ENST00000356839.9:c.1895G>A | ENSP00000349297.5:p.Arg632His | |
| ENST00000542255.6:c.774G>A | ||
| ENST00000543245.6:c.1964G>A | ENSP00000438689.2:p.Arg655His | |
| ENST00000578033.1:n.320G>A | ||
| ENST00000578319.5:n.476G>A | ||
| ENST00000578711.1:n.1520G>A | ||
| ENST00000578809.5:n.467G>A | ||
| ENST00000579425.5:n.1011G>A | ||
| ENST00000583848.5:c.261G>A | ENSP00000466487.1:n.261G>A | |
| ENST00000583850.5:n.666G>A | ||
| ENST00000583858.5:c.826G>A | ||
| NM_000018.3:c.1895G>A | NP_000009.1:p.Arg632His | |
| NM_001033859.2:c.1829G>A | NP_001029031.1:p.Arg610His | |
| NM_001270447.1:c.1964G>A | NP_001257376.1:p.Arg655His | |
| NM_001270448.1:c.1667G>A | NP_001257377.1:p.Arg556His | |
| XM_006721516.2:c.1916G>A | XP_006721579.2:p.Arg639His | |
| XM_011523829.1:c.1814G>A | XP_011522131.1:p.Arg605His | |
| XM_011523830.1:c.1793G>A | XP_011522132.1:p.Arg598His | |
| XR_934021.1:n.1998G>A | ||
| XR_934022.1:n.1904G>A | ||
| XR_934023.1:n.1925G>A | ||
| XM_006721516.3:c.1916G>A | XP_006721579.2:p.Arg639His | |
| XM_011523829.2:c.1814G>A | XP_011522131.1:p.Arg605His | |
| XM_011523830.2:c.1793G>A | XP_011522132.1:p.Arg598His | |
| XM_024450741.1:c.1883G>A | XP_024306509.1:p.Arg628His | |
| XR_934021.2:n.1950G>A | ||
| XR_934022.2:n.1856G>A | ||
| XR_934023.2:n.1877G>A | ||
| NM_000018.4:c.1895G>A MANE Select | NP_000009.1:p.Arg632His | |
| NM_001033859.3:c.1829G>A | NP_001029031.1:p.Arg610His | |
| NM_001270447.2:c.1964G>A | NP_001257376.1:p.Arg655His | |
| NM_001270448.2:c.1667G>A | NP_001257377.1:p.Arg556His |