Linked Data
ClinVar Variation Id:
991127
ClinVar RCV Id:
RCV001279287
dbSNP Id:
rs531514327
ExAC:
17:7125601 G / A
gnomAD v2:
17-7125601-G-A
gnomAD v3:
17-7222282-G-A
gnomAD v4:
17-7222282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222282G>A , CM000679.2:g.7222282G>A | GRCh38 |
| NC_000017.10:g.7125601G>A , CM000679.1:g.7125601G>A | GRCh37 |
| NC_000017.9:g.7066325G>A | NCBI36 |
| NG_007975.1:g.7449G>A | |
| NG_008391.2:g.2769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.858G>A MANE Select | ENSP00000349297.5:p.Arg286= | |
| ENST00000322910.9:c.*813G>A | ENSP00000325395.5:n.*813G>A | |
| ENST00000350303.9:c.792G>A | ENSP00000344152.5:p.Arg264= | |
| ENST00000356839.9:c.858G>A | ENSP00000349297.5:p.Arg286= | |
| ENST00000543245.6:c.927G>A | ENSP00000438689.2:p.Arg309= | |
| ENST00000577191.5:n.1030G>A | ||
| ENST00000581378.5:c.576G>A | ||
| ENST00000582379.1:n.242G>A | ||
| NM_000018.3:c.858G>A | NP_000009.1:p.Arg286= | |
| NM_001033859.2:c.792G>A | NP_001029031.1:p.Arg264= | |
| NM_001270447.1:c.927G>A | NP_001257376.1:p.Arg309= | |
| NM_001270448.1:c.630G>A | NP_001257377.1:p.Arg210= | |
| XM_006721516.2:c.858G>A | XP_006721579.2:p.Arg286= | |
| XM_011523829.1:c.858G>A | XP_011522131.1:p.Arg286= | |
| XM_011523830.1:c.858G>A | XP_011522132.1:p.Arg286= | |
| XR_934021.1:n.965G>A | ||
| XR_934022.1:n.965G>A | ||
| XR_934023.1:n.965G>A | ||
| XM_006721516.3:c.858G>A | XP_006721579.2:p.Arg286= | |
| XM_011523829.2:c.858G>A | XP_011522131.1:p.Arg286= | |
| XM_011523830.2:c.858G>A | XP_011522132.1:p.Arg286= | |
| XM_024450741.1:c.858G>A | XP_024306509.1:p.Arg286= | |
| XR_934021.2:n.917G>A | ||
| XR_934022.2:n.917G>A | ||
| XR_934023.2:n.917G>A | ||
| NM_000018.4:c.858G>A MANE Select | NP_000009.1:p.Arg286= | |
| NM_001033859.3:c.792G>A | NP_001029031.1:p.Arg264= | |
| NM_001270447.2:c.927G>A | NP_001257376.1:p.Arg309= | |
| NM_001270448.2:c.630G>A | NP_001257377.1:p.Arg210= |