Linked Data
ClinVar Variation Id:
1450588
ClinVar RCV Id:
RCV002004888
dbSNP Id:
rs761199646
ExAC:
17:7125566 G / A
gnomAD v2:
17-7125566-G-A
gnomAD v3:
17-7222247-G-A
gnomAD v4:
17-7222247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222247G>A , CM000679.2:g.7222247G>A | GRCh38 |
| NC_000017.10:g.7125566G>A , CM000679.1:g.7125566G>A | GRCh37 |
| NC_000017.9:g.7066290G>A | NCBI36 |
| NG_007975.1:g.7414G>A | |
| NG_008391.2:g.2804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.823G>A MANE Select | ENSP00000349297.5:p.Val275Met | |
| ENST00000322910.9:c.*778G>A | ENSP00000325395.5:n.*778G>A | |
| ENST00000350303.9:c.757G>A | ENSP00000344152.5:p.Val253Met | |
| ENST00000356839.9:c.823G>A | ENSP00000349297.5:p.Val275Met | |
| ENST00000543245.6:c.892G>A | ENSP00000438689.2:p.Val298Met | |
| ENST00000577191.5:n.995G>A | ||
| ENST00000581378.5:c.541G>A | ||
| ENST00000582379.1:n.207G>A | ||
| NM_000018.3:c.823G>A | NP_000009.1:p.Val275Met | |
| NM_001033859.2:c.757G>A | NP_001029031.1:p.Val253Met | |
| NM_001270447.1:c.892G>A | NP_001257376.1:p.Val298Met | |
| NM_001270448.1:c.595G>A | NP_001257377.1:p.Val199Met | |
| XM_006721516.2:c.823G>A | XP_006721579.2:p.Val275Met | |
| XM_011523829.1:c.823G>A | XP_011522131.1:p.Val275Met | |
| XM_011523830.1:c.823G>A | XP_011522132.1:p.Val275Met | |
| XR_934021.1:n.930G>A | ||
| XR_934022.1:n.930G>A | ||
| XR_934023.1:n.930G>A | ||
| XM_006721516.3:c.823G>A | XP_006721579.2:p.Val275Met | |
| XM_011523829.2:c.823G>A | XP_011522131.1:p.Val275Met | |
| XM_011523830.2:c.823G>A | XP_011522132.1:p.Val275Met | |
| XM_024450741.1:c.823G>A | XP_024306509.1:p.Val275Met | |
| XR_934021.2:n.882G>A | ||
| XR_934022.2:n.882G>A | ||
| XR_934023.2:n.882G>A | ||
| NM_000018.4:c.823G>A MANE Select | NP_000009.1:p.Val275Met | |
| NM_001033859.3:c.757G>A | NP_001029031.1:p.Val253Met | |
| NM_001270447.2:c.892G>A | NP_001257376.1:p.Val298Met | |
| NM_001270448.2:c.595G>A | NP_001257377.1:p.Val199Met |