Linked Data
ClinVar Variation Id:
681960
dbSNP Id:
rs201509063
gnomAD v2:
17-7125598-G-A
gnomAD v3:
17-7222279-G-A
gnomAD v4:
17-7222279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222279G>A , CM000679.2:g.7222279G>A | GRCh38 |
| NC_000017.10:g.7125598G>A , CM000679.1:g.7125598G>A | GRCh37 |
| NC_000017.9:g.7066322G>A | NCBI36 |
| NG_007975.1:g.7446G>A | |
| NG_008391.2:g.2772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.855G>A MANE Select | ENSP00000349297.5:p.Glu285= | |
| ENST00000322910.9:c.*810G>A | ENSP00000325395.5:n.*810G>A | |
| ENST00000350303.9:c.789G>A | ENSP00000344152.5:p.Glu263= | |
| ENST00000356839.9:c.855G>A | ENSP00000349297.5:p.Glu285= | |
| ENST00000543245.6:c.924G>A | ENSP00000438689.2:p.Glu308= | |
| ENST00000577191.5:n.1027G>A | ||
| ENST00000581378.5:c.573G>A | ||
| ENST00000582379.1:n.239G>A | ||
| NM_000018.3:c.855G>A | NP_000009.1:p.Glu285= | |
| NM_001033859.2:c.789G>A | NP_001029031.1:p.Glu263= | |
| NM_001270447.1:c.924G>A | NP_001257376.1:p.Glu308= | |
| NM_001270448.1:c.627G>A | NP_001257377.1:p.Glu209= | |
| XM_006721516.2:c.855G>A | XP_006721579.2:p.Glu285= | |
| XM_011523829.1:c.855G>A | XP_011522131.1:p.Glu285= | |
| XM_011523830.1:c.855G>A | XP_011522132.1:p.Glu285= | |
| XR_934021.1:n.962G>A | ||
| XR_934022.1:n.962G>A | ||
| XR_934023.1:n.962G>A | ||
| XM_006721516.3:c.855G>A | XP_006721579.2:p.Glu285= | |
| XM_011523829.2:c.855G>A | XP_011522131.1:p.Glu285= | |
| XM_011523830.2:c.855G>A | XP_011522132.1:p.Glu285= | |
| XM_024450741.1:c.855G>A | XP_024306509.1:p.Glu285= | |
| XR_934021.2:n.914G>A | ||
| XR_934022.2:n.914G>A | ||
| XR_934023.2:n.914G>A | ||
| NM_000018.4:c.855G>A MANE Select | NP_000009.1:p.Glu285= | |
| NM_001033859.3:c.789G>A | NP_001029031.1:p.Glu263= | |
| NM_001270447.2:c.924G>A | NP_001257376.1:p.Glu308= | |
| NM_001270448.2:c.627G>A | NP_001257377.1:p.Glu209= |