Linked Data
ClinVar Variation Id:
1366912
ClinVar RCV Id:
RCV001944905
dbSNP Id:
rs1271862153
gnomAD v2:
17-7126082-G-C
gnomAD v4:
17-7222763-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222763G>C , CM000679.2:g.7222763G>C | GRCh38 |
| NC_000017.10:g.7126082G>C , CM000679.1:g.7126082G>C | GRCh37 |
| NC_000017.9:g.7066806G>C | NCBI36 |
| NG_007975.1:g.7930G>C | |
| NG_008391.2:g.2288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.975G>C MANE Select | ENSP00000349297.5:p.Glu325Asp | |
| ENST00000322910.9:c.*930G>C | ENSP00000325395.5:n.*930G>C | |
| ENST00000350303.9:c.909G>C | ENSP00000344152.5:p.Glu303Asp | |
| ENST00000356839.9:c.975G>C | ENSP00000349297.5:p.Glu325Asp | |
| ENST00000543245.6:c.1044G>C | ENSP00000438689.2:p.Glu348Asp | |
| ENST00000578824.5:n.124G>C | ||
| ENST00000581378.5:c.693G>C | ||
| ENST00000582379.1:n.359G>C | ||
| ENST00000583858.5:c.4G>C | ||
| NM_000018.3:c.975G>C | NP_000009.1:p.Glu325Asp | |
| NM_001033859.2:c.909G>C | NP_001029031.1:p.Glu303Asp | |
| NM_001270447.1:c.1044G>C | NP_001257376.1:p.Glu348Asp | |
| NM_001270448.1:c.747G>C | NP_001257377.1:p.Glu249Asp | |
| XM_006721516.2:c.975G>C | XP_006721579.2:p.Glu325Asp | |
| XM_011523829.1:c.975G>C | XP_011522131.1:p.Glu325Asp | |
| XM_011523830.1:c.975G>C | XP_011522132.1:p.Glu325Asp | |
| XR_934021.1:n.1082G>C | ||
| XR_934022.1:n.1082G>C | ||
| XR_934023.1:n.1082G>C | ||
| XM_006721516.3:c.975G>C | XP_006721579.2:p.Glu325Asp | |
| XM_011523829.2:c.975G>C | XP_011522131.1:p.Glu325Asp | |
| XM_011523830.2:c.975G>C | XP_011522132.1:p.Glu325Asp | |
| XM_024450741.1:c.975G>C | XP_024306509.1:p.Glu325Asp | |
| XR_934021.2:n.1034G>C | ||
| XR_934022.2:n.1034G>C | ||
| XR_934023.2:n.1034G>C | ||
| NM_000018.4:c.975G>C MANE Select | NP_000009.1:p.Glu325Asp | |
| NM_001033859.3:c.909G>C | NP_001029031.1:p.Glu303Asp | |
| NM_001270447.2:c.1044G>C | NP_001257376.1:p.Glu348Asp | |
| NM_001270448.2:c.747G>C | NP_001257377.1:p.Glu249Asp |