Linked Data
ClinVar Variation Id:
21012
dbSNP Id:
rs8064573
ExAC:
17:7126145 G / A
gnomAD v2:
17-7126145-G-A
gnomAD v3:
17-7222826-G-A
gnomAD v4:
17-7222826-G-A
ERepo:
CA145601/MONDO:0008723/021
PubMed:
PMID:20301763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222826G>A , CM000679.2:g.7222826G>A | GRCh38 |
| NC_000017.10:g.7126145G>A , CM000679.1:g.7126145G>A | GRCh37 |
| NC_000017.9:g.7066869G>A | NCBI36 |
| NG_007975.1:g.7993G>A | |
| NG_008391.2:g.2225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1038G>A MANE Select | ENSP00000349297.5:p.Ala346= | |
| ENST00000322910.9:c.*993G>A | ENSP00000325395.5:n.*993G>A | |
| ENST00000350303.9:c.972G>A | ENSP00000344152.5:p.Ala324= | |
| ENST00000356839.9:c.1038G>A | ENSP00000349297.5:p.Ala346= | |
| ENST00000543245.6:c.1107G>A | ENSP00000438689.2:p.Ala369= | |
| ENST00000578824.5:n.187G>A | ||
| ENST00000582379.1:n.422G>A | ||
| ENST00000583858.5:c.67G>A | ||
| NM_000018.3:c.1038G>A | NP_000009.1:p.Ala346= | |
| NM_001033859.2:c.972G>A | NP_001029031.1:p.Ala324= | |
| NM_001270447.1:c.1107G>A | NP_001257376.1:p.Ala369= | |
| NM_001270448.1:c.810G>A | NP_001257377.1:p.Ala270= | |
| XM_006721516.2:c.1038G>A | XP_006721579.2:p.Ala346= | |
| XM_011523829.1:c.1038G>A | XP_011522131.1:p.Ala346= | |
| XM_011523830.1:c.1038G>A | XP_011522132.1:p.Ala346= | |
| XR_934021.1:n.1145G>A | ||
| XR_934022.1:n.1145G>A | ||
| XR_934023.1:n.1145G>A | ||
| XM_006721516.3:c.1038G>A | XP_006721579.2:p.Ala346= | |
| XM_011523829.2:c.1038G>A | XP_011522131.1:p.Ala346= | |
| XM_011523830.2:c.1038G>A | XP_011522132.1:p.Ala346= | |
| XM_024450741.1:c.1038G>A | XP_024306509.1:p.Ala346= | |
| XR_934021.2:n.1097G>A | ||
| XR_934022.2:n.1097G>A | ||
| XR_934023.2:n.1097G>A | ||
| NM_000018.4:c.1038G>A MANE Select | NP_000009.1:p.Ala346= | |
| NM_001033859.3:c.972G>A | NP_001029031.1:p.Ala324= | |
| NM_001270447.2:c.1107G>A | NP_001257376.1:p.Ala369= | |
| NM_001270448.2:c.810G>A | NP_001257377.1:p.Ala270= |