Linked Data
ClinVar Variation Id:
474884
ClinVar RCV Id:
RCV000554531
dbSNP Id:
rs1555528779
gnomAD v4:
17-7223975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223975G>A , CM000679.2:g.7223975G>A | GRCh38 |
| NC_000017.10:g.7127294G>A , CM000679.1:g.7127294G>A | GRCh37 |
| NC_000017.9:g.7068018G>A | NCBI36 |
| NG_007975.1:g.9142G>A | |
| NG_008391.2:g.1076C>T | |
| NG_033038.1:g.15570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1340G>A MANE Select | ENSP00000349297.5:p.Gly447Glu | |
| ENST00000322910.9:c.*1295G>A | ENSP00000325395.5:n.*1295G>A | |
| ENST00000350303.9:c.1274G>A | ENSP00000344152.5:p.Gly425Glu | |
| ENST00000356839.9:c.1340G>A | ENSP00000349297.5:p.Gly447Glu | |
| ENST00000542255.6:c.198G>A | ||
| ENST00000543245.6:c.1409G>A | ENSP00000438689.2:p.Gly470Glu | |
| ENST00000578711.1:n.471G>A | ||
| ENST00000579425.5:n.456G>A | ||
| ENST00000579546.1:c.177G>A | ||
| ENST00000579894.5:n.51G>A | ||
| ENST00000583074.5:n.59G>A | ||
| ENST00000583850.5:n.115G>A | ||
| ENST00000583858.5:c.369G>A | ||
| ENST00000585203.6:n.531G>A | ||
| NM_000018.3:c.1340G>A | NP_000009.1:p.Gly447Glu | |
| NM_001033859.2:c.1274G>A | NP_001029031.1:p.Gly425Glu | |
| NM_001270447.1:c.1409G>A | NP_001257376.1:p.Gly470Glu | |
| NM_001270448.1:c.1112G>A | NP_001257377.1:p.Gly371Glu | |
| XM_006721516.2:c.1340G>A | XP_006721579.2:p.Gly447Glu | |
| XM_011523829.1:c.1340G>A | XP_011522131.1:p.Gly447Glu | |
| XM_011523830.1:c.1340G>A | XP_011522132.1:p.Gly447Glu | |
| XR_934021.1:n.1447G>A | ||
| XR_934022.1:n.1447G>A | ||
| XR_934023.1:n.1447G>A | ||
| XM_006721516.3:c.1340G>A | XP_006721579.2:p.Gly447Glu | |
| XM_011523829.2:c.1340G>A | XP_011522131.1:p.Gly447Glu | |
| XM_011523830.2:c.1340G>A | XP_011522132.1:p.Gly447Glu | |
| XM_024450741.1:c.1340G>A | XP_024306509.1:p.Gly447Glu | |
| XR_934021.2:n.1399G>A | ||
| XR_934022.2:n.1399G>A | ||
| XR_934023.2:n.1399G>A | ||
| NM_000018.4:c.1340G>A MANE Select | NP_000009.1:p.Gly447Glu | |
| NM_001033859.3:c.1274G>A | NP_001029031.1:p.Gly425Glu | |
| NM_001270447.2:c.1409G>A | NP_001257376.1:p.Gly470Glu | |
| NM_001270448.2:c.1112G>A | NP_001257377.1:p.Gly371Glu |