Linked Data
ClinVar Variation Id:
1389021
ClinVar RCV Id:
RCV001886955
dbSNP Id:
rs2071287588
gnomAD v4:
17-7222679-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222679G>C , CM000679.2:g.7222679G>C | GRCh38 |
| NC_000017.10:g.7125998G>C , CM000679.1:g.7125998G>C | GRCh37 |
| NC_000017.9:g.7066722G>C | NCBI36 |
| NG_007975.1:g.7846G>C | |
| NG_008391.2:g.2372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.891G>C MANE Select | ENSP00000349297.5:p.Glu297Asp | |
| ENST00000322910.9:c.*846G>C | ENSP00000325395.5:n.*846G>C | |
| ENST00000350303.9:c.825G>C | ENSP00000344152.5:p.Glu275Asp | |
| ENST00000356839.9:c.891G>C | ENSP00000349297.5:p.Glu297Asp | |
| ENST00000543245.6:c.960G>C | ENSP00000438689.2:p.Glu320Asp | |
| ENST00000578824.5:n.40G>C | ||
| ENST00000581378.5:c.609G>C | ||
| ENST00000582379.1:n.275G>C | ||
| NM_000018.3:c.891G>C | NP_000009.1:p.Glu297Asp | |
| NM_001033859.2:c.825G>C | NP_001029031.1:p.Glu275Asp | |
| NM_001270447.1:c.960G>C | NP_001257376.1:p.Glu320Asp | |
| NM_001270448.1:c.663G>C | NP_001257377.1:p.Glu221Asp | |
| XM_006721516.2:c.891G>C | XP_006721579.2:p.Glu297Asp | |
| XM_011523829.1:c.891G>C | XP_011522131.1:p.Glu297Asp | |
| XM_011523830.1:c.891G>C | XP_011522132.1:p.Glu297Asp | |
| XR_934021.1:n.998G>C | ||
| XR_934022.1:n.998G>C | ||
| XR_934023.1:n.998G>C | ||
| XM_006721516.3:c.891G>C | XP_006721579.2:p.Glu297Asp | |
| XM_011523829.2:c.891G>C | XP_011522131.1:p.Glu297Asp | |
| XM_011523830.2:c.891G>C | XP_011522132.1:p.Glu297Asp | |
| XM_024450741.1:c.891G>C | XP_024306509.1:p.Glu297Asp | |
| XR_934021.2:n.950G>C | ||
| XR_934022.2:n.950G>C | ||
| XR_934023.2:n.950G>C | ||
| NM_000018.4:c.891G>C MANE Select | NP_000009.1:p.Glu297Asp | |
| NM_001033859.3:c.825G>C | NP_001029031.1:p.Glu275Asp | |
| NM_001270447.2:c.960G>C | NP_001257376.1:p.Glu320Asp | |
| NM_001270448.2:c.663G>C | NP_001257377.1:p.Glu221Asp |