Linked Data
ClinVar Variation Id:
370981
dbSNP Id:
rs200788251
ExAC:
17:7125608 G / A
gnomAD v2:
17-7125608-G-A
gnomAD v3:
17-7222289-G-A
gnomAD v4:
17-7222289-G-A
ERepo:
CA8337873/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222289G>A , CM000679.2:g.7222289G>A | GRCh38 |
| NC_000017.10:g.7125608G>A , CM000679.1:g.7125608G>A | GRCh37 |
| NC_000017.9:g.7066332G>A | NCBI36 |
| NG_007975.1:g.7456G>A | |
| NG_008391.2:g.2762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.865G>A MANE Select | ENSP00000349297.5:p.Gly289Arg | |
| ENST00000322910.9:c.*820G>A | ENSP00000325395.5:n.*820G>A | |
| ENST00000350303.9:c.799G>A | ENSP00000344152.5:p.Gly267Arg | |
| ENST00000356839.9:c.865G>A | ENSP00000349297.5:p.Gly289Arg | |
| ENST00000543245.6:c.934G>A | ENSP00000438689.2:p.Gly312Arg | |
| ENST00000577191.5:n.1037G>A | ||
| ENST00000581378.5:c.583G>A | ||
| ENST00000582379.1:n.249G>A | ||
| NM_000018.3:c.865G>A | NP_000009.1:p.Gly289Arg | |
| NM_001033859.2:c.799G>A | NP_001029031.1:p.Gly267Arg | |
| NM_001270447.1:c.934G>A | NP_001257376.1:p.Gly312Arg | |
| NM_001270448.1:c.637G>A | NP_001257377.1:p.Gly213Arg | |
| XM_006721516.2:c.865G>A | XP_006721579.2:p.Gly289Arg | |
| XM_011523829.1:c.865G>A | XP_011522131.1:p.Gly289Arg | |
| XM_011523830.1:c.865G>A | XP_011522132.1:p.Gly289Arg | |
| XR_934021.1:n.972G>A | ||
| XR_934022.1:n.972G>A | ||
| XR_934023.1:n.972G>A | ||
| XM_006721516.3:c.865G>A | XP_006721579.2:p.Gly289Arg | |
| XM_011523829.2:c.865G>A | XP_011522131.1:p.Gly289Arg | |
| XM_011523830.2:c.865G>A | XP_011522132.1:p.Gly289Arg | |
| XM_024450741.1:c.865G>A | XP_024306509.1:p.Gly289Arg | |
| XR_934021.2:n.924G>A | ||
| XR_934022.2:n.924G>A | ||
| XR_934023.2:n.924G>A | ||
| NM_000018.4:c.865G>A MANE Select | NP_000009.1:p.Gly289Arg | |
| NM_001033859.3:c.799G>A | NP_001029031.1:p.Gly267Arg | |
| NM_001270447.2:c.934G>A | NP_001257376.1:p.Gly312Arg | |
| NM_001270448.2:c.637G>A | NP_001257377.1:p.Gly213Arg |