Linked Data
ClinVar Variation Id:
1089783
ClinVar RCV Id:
RCV001408724
dbSNP Id:
rs1367195566
gnomAD v2:
17-7125323-A-G
gnomAD v4:
17-7222004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222004A>G , CM000679.2:g.7222004A>G | GRCh38 |
| NC_000017.10:g.7125323A>G , CM000679.1:g.7125323A>G | GRCh37 |
| NC_000017.9:g.7066047A>G | NCBI36 |
| NG_007975.1:g.7171A>G | |
| NG_008391.2:g.3047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.675A>G MANE Select | ENSP00000349297.5:p.Ala225= | |
| ENST00000322910.9:c.*630A>G | ENSP00000325395.5:n.*630A>G | |
| ENST00000350303.9:c.609A>G | ENSP00000344152.5:p.Ala203= | |
| ENST00000356839.9:c.675A>G | ENSP00000349297.5:p.Ala225= | |
| ENST00000543245.6:c.744A>G | ENSP00000438689.2:p.Ala248= | |
| ENST00000577191.5:n.752A>G | ||
| ENST00000577857.5:n.491A>G | ||
| ENST00000579286.5:n.856A>G | ||
| ENST00000580365.1:n.406A>G | ||
| ENST00000581378.5:c.393A>G | ||
| ENST00000582379.1:n.59A>G | ||
| ENST00000583760.1:n.457A>G | ||
| NM_000018.3:c.675A>G | NP_000009.1:p.Ala225= | |
| NM_001033859.2:c.609A>G | NP_001029031.1:p.Ala203= | |
| NM_001270447.1:c.744A>G | NP_001257376.1:p.Ala248= | |
| NM_001270448.1:c.447A>G | NP_001257377.1:p.Ala149= | |
| XM_006721516.2:c.675A>G | XP_006721579.2:p.Ala225= | |
| XM_011523829.1:c.675A>G | XP_011522131.1:p.Ala225= | |
| XM_011523830.1:c.675A>G | XP_011522132.1:p.Ala225= | |
| XR_934021.1:n.782A>G | ||
| XR_934022.1:n.782A>G | ||
| XR_934023.1:n.782A>G | ||
| XM_006721516.3:c.675A>G | XP_006721579.2:p.Ala225= | |
| XM_011523829.2:c.675A>G | XP_011522131.1:p.Ala225= | |
| XM_011523830.2:c.675A>G | XP_011522132.1:p.Ala225= | |
| XM_024450741.1:c.675A>G | XP_024306509.1:p.Ala225= | |
| XR_934021.2:n.734A>G | ||
| XR_934022.2:n.734A>G | ||
| XR_934023.2:n.734A>G | ||
| NM_000018.4:c.675A>G MANE Select | NP_000009.1:p.Ala225= | |
| NM_001033859.3:c.609A>G | NP_001029031.1:p.Ala203= | |
| NM_001270447.2:c.744A>G | NP_001257376.1:p.Ala248= | |
| NM_001270448.2:c.447A>G | NP_001257377.1:p.Ala149= |