Linked Data
ClinVar Variation Id:
2153158
ClinVar RCV Id:
RCV003085520
dbSNP Id:
rs946654479
gnomAD v2:
17-7127643-G-A
gnomAD v3:
17-7224324-G-A
gnomAD v4:
17-7224324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224324G>A , CM000679.2:g.7224324G>A | GRCh38 |
| NC_000017.10:g.7127643G>A , CM000679.1:g.7127643G>A | GRCh37 |
| NC_000017.9:g.7068367G>A | NCBI36 |
| NG_007975.1:g.9491G>A | |
| NG_008391.2:g.727C>T | |
| NG_033038.1:g.15221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1536G>A MANE Select | ENSP00000349297.5:p.Arg512= | |
| ENST00000322910.9:c.*1491G>A | ENSP00000325395.5:n.*1491G>A | |
| ENST00000350303.9:c.1470G>A | ENSP00000344152.5:p.Arg490= | |
| ENST00000356839.9:c.1536G>A | ENSP00000349297.5:p.Arg512= | |
| ENST00000542255.6:c.394G>A | ||
| ENST00000543245.6:c.1605G>A | ENSP00000438689.2:p.Arg535= | |
| ENST00000578319.5:n.31G>A | ||
| ENST00000578711.1:n.820G>A | ||
| ENST00000578809.5:n.108G>A | ||
| ENST00000579391.1:n.144G>A | ||
| ENST00000579425.5:n.652G>A | ||
| ENST00000579546.1:c.275G>A | ||
| ENST00000579894.5:n.323G>A | ||
| ENST00000582450.1:n.44G>A | ||
| ENST00000583074.5:n.157G>A | ||
| ENST00000583850.5:n.311G>A | ||
| ENST00000583858.5:c.467G>A | ||
| ENST00000585203.6:n.727G>A | ||
| NM_000018.3:c.1536G>A | NP_000009.1:p.Arg512= | |
| NM_001033859.2:c.1470G>A | NP_001029031.1:p.Arg490= | |
| NM_001270447.1:c.1605G>A | NP_001257376.1:p.Arg535= | |
| NM_001270448.1:c.1308G>A | NP_001257377.1:p.Arg436= | |
| XM_006721516.2:c.1536G>A | XP_006721579.2:p.Arg512= | |
| XM_011523829.1:c.1438G>A | XP_011522131.1:p.Gly480Ser | |
| XM_011523830.1:c.1438G>A | XP_011522132.1:p.Gly480Ser | |
| XR_934021.1:n.1643G>A | ||
| XR_934022.1:n.1545G>A | ||
| XR_934023.1:n.1545G>A | ||
| XM_006721516.3:c.1536G>A | XP_006721579.2:p.Arg512= | |
| XM_011523829.2:c.1438G>A | XP_011522131.1:p.Gly480Ser | |
| XM_011523830.2:c.1438G>A | XP_011522132.1:p.Gly480Ser | |
| XM_024450741.1:c.1438G>A | XP_024306509.1:p.Gly480Ser | |
| XR_934021.2:n.1595G>A | ||
| XR_934022.2:n.1497G>A | ||
| XR_934023.2:n.1497G>A | ||
| NM_000018.4:c.1536G>A MANE Select | NP_000009.1:p.Arg512= | |
| NM_001033859.3:c.1470G>A | NP_001029031.1:p.Arg490= | |
| NM_001270447.2:c.1605G>A | NP_001257376.1:p.Arg535= | |
| NM_001270448.2:c.1308G>A | NP_001257377.1:p.Arg436= |