Linked Data
ClinVar Variation Id:
784756
dbSNP Id:
rs745996278
ExAC:
17:7127682 C / A
gnomAD v2:
17-7127682-C-A
gnomAD v3:
17-7224363-C-A
gnomAD v4:
17-7224363-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224363C>A , CM000679.2:g.7224363C>A | GRCh38 |
| NC_000017.10:g.7127682C>A , CM000679.1:g.7127682C>A | GRCh37 |
| NC_000017.9:g.7068406C>A | NCBI36 |
| NG_007975.1:g.9530C>A | |
| NG_008391.2:g.688G>T | |
| NG_033038.1:g.15182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1575C>A MANE Select | ENSP00000349297.5:p.Val525= | |
| ENST00000322910.9:c.*1530C>A | ENSP00000325395.5:n.*1530C>A | |
| ENST00000350303.9:c.1509C>A | ENSP00000344152.5:p.Val503= | |
| ENST00000356839.9:c.1575C>A | ENSP00000349297.5:p.Val525= | |
| ENST00000542255.6:c.433C>A | ||
| ENST00000543245.6:c.1644C>A | ENSP00000438689.2:p.Val548= | |
| ENST00000578319.5:n.70C>A | ||
| ENST00000578711.1:n.859C>A | ||
| ENST00000578809.5:n.147C>A | ||
| ENST00000579391.1:n.183C>A | ||
| ENST00000579425.5:n.691C>A | ||
| ENST00000579546.1:c.314C>A | ||
| ENST00000579894.5:n.362C>A | ||
| ENST00000582450.1:n.83C>A | ||
| ENST00000583074.5:n.196C>A | ||
| ENST00000583850.5:n.350C>A | ||
| ENST00000583858.5:c.506C>A | ||
| ENST00000585203.6:n.766C>A | ||
| NM_000018.3:c.1575C>A | NP_000009.1:p.Val525= | |
| NM_001033859.2:c.1509C>A | NP_001029031.1:p.Val503= | |
| NM_001270447.1:c.1644C>A | NP_001257376.1:p.Val548= | |
| NM_001270448.1:c.1347C>A | NP_001257377.1:p.Val449= | |
| XM_006721516.2:c.1575C>A | XP_006721579.2:p.Val525= | |
| XM_011523829.1:c.1477C>A | XP_011522131.1:p.Pro493Thr | |
| XM_011523830.1:c.1477C>A | XP_011522132.1:p.Pro493Thr | |
| XR_934021.1:n.1682C>A | ||
| XR_934022.1:n.1584C>A | ||
| XR_934023.1:n.1584C>A | ||
| XM_006721516.3:c.1575C>A | XP_006721579.2:p.Val525= | |
| XM_011523829.2:c.1477C>A | XP_011522131.1:p.Pro493Thr | |
| XM_011523830.2:c.1477C>A | XP_011522132.1:p.Pro493Thr | |
| XM_024450741.1:c.1477C>A | XP_024306509.1:p.Pro493Thr | |
| XR_934021.2:n.1634C>A | ||
| XR_934022.2:n.1536C>A | ||
| XR_934023.2:n.1536C>A | ||
| NM_000018.4:c.1575C>A MANE Select | NP_000009.1:p.Val525= | |
| NM_001033859.3:c.1509C>A | NP_001029031.1:p.Val503= | |
| NM_001270447.2:c.1644C>A | NP_001257376.1:p.Val548= | |
| NM_001270448.2:c.1347C>A | NP_001257377.1:p.Val449= |