Linked Data
ClinVar Variation Id:
828131
ClinVar RCV Id:
RCV001028002
dbSNP Id:
rs1597534120
gnomAD v4:
17-7223702-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223702A>C , CM000679.2:g.7223702A>C | GRCh38 |
| NC_000017.10:g.7127021A>C , CM000679.1:g.7127021A>C | GRCh37 |
| NC_000017.9:g.7067745A>C | NCBI36 |
| NG_007975.1:g.8869A>C | |
| NG_008391.2:g.1349T>G | |
| NG_033038.1:g.15843T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1241A>C MANE Select | ENSP00000349297.5:p.Glu414Ala | |
| ENST00000322910.9:c.*1196A>C | ENSP00000325395.5:n.*1196A>C | |
| ENST00000350303.9:c.1175A>C | ENSP00000344152.5:p.Glu392Ala | |
| ENST00000356839.9:c.1241A>C | ENSP00000349297.5:p.Glu414Ala | |
| ENST00000542255.6:c.99A>C | ||
| ENST00000543245.6:c.1310A>C | ENSP00000438689.2:p.Glu437Ala | |
| ENST00000578579.2:n.412A>C | ||
| ENST00000578711.1:n.198A>C | ||
| ENST00000578824.5:n.657A>C | ||
| ENST00000579425.5:n.265A>C | ||
| ENST00000579546.1:c.78A>C | ||
| ENST00000583850.5:n.16A>C | ||
| ENST00000583858.5:c.270A>C | ||
| ENST00000585203.6:n.449A>C | ||
| NM_000018.3:c.1241A>C | NP_000009.1:p.Glu414Ala | |
| NM_001033859.2:c.1175A>C | NP_001029031.1:p.Glu392Ala | |
| NM_001270447.1:c.1310A>C | NP_001257376.1:p.Glu437Ala | |
| NM_001270448.1:c.1013A>C | NP_001257377.1:p.Glu338Ala | |
| XM_006721516.2:c.1241A>C | XP_006721579.2:p.Glu414Ala | |
| XM_011523829.1:c.1241A>C | XP_011522131.1:p.Glu414Ala | |
| XM_011523830.1:c.1241A>C | XP_011522132.1:p.Glu414Ala | |
| XR_934021.1:n.1348A>C | ||
| XR_934022.1:n.1348A>C | ||
| XR_934023.1:n.1348A>C | ||
| XM_006721516.3:c.1241A>C | XP_006721579.2:p.Glu414Ala | |
| XM_011523829.2:c.1241A>C | XP_011522131.1:p.Glu414Ala | |
| XM_011523830.2:c.1241A>C | XP_011522132.1:p.Glu414Ala | |
| XM_024450741.1:c.1241A>C | XP_024306509.1:p.Glu414Ala | |
| XR_934021.2:n.1300A>C | ||
| XR_934022.2:n.1300A>C | ||
| XR_934023.2:n.1300A>C | ||
| NM_000018.4:c.1241A>C MANE Select | NP_000009.1:p.Glu414Ala | |
| NM_001033859.3:c.1175A>C | NP_001029031.1:p.Glu392Ala | |
| NM_001270447.2:c.1310A>C | NP_001257376.1:p.Glu437Ala | |
| NM_001270448.2:c.1013A>C | NP_001257377.1:p.Glu338Ala |