Linked Data
dbSNP Id:
rs765592168
ExAC:
17:7128110 T / A
gnomAD v2:
17-7128110-T-A
gnomAD v4:
17-7224791-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224791T>A , CM000679.2:g.7224791T>A | GRCh38 |
| NC_000017.10:g.7128110T>A , CM000679.1:g.7128110T>A | GRCh37 |
| NC_000017.9:g.7068834T>A | NCBI36 |
| NG_007975.1:g.9958T>A | |
| NG_008391.2:g.260A>T | |
| NG_033038.1:g.14754A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1752-18T>A MANE Select | ENSP00000349297.5:n.1752-18T>A | |
| ENST00000322910.9:c.*1707-18T>A | ENSP00000325395.5:n.*1707-18T>A | |
| ENST00000350303.9:c.1686-18T>A | ENSP00000344152.5:n.1686-18T>A | |
| ENST00000356839.9:c.1752-18T>A | ENSP00000349297.5:n.1752-18T>A | |
| ENST00000542255.6:c.613T>A | ||
| ENST00000543245.6:c.1821-18T>A | ENSP00000438689.2:n.1821-18T>A | |
| ENST00000578033.1:n.159T>A | ||
| ENST00000578319.5:n.333-18T>A | ||
| ENST00000578711.1:n.1287T>A | ||
| ENST00000578809.5:n.324-18T>A | ||
| ENST00000579425.5:n.868-18T>A | ||
| ENST00000579546.1:c.487-18T>A | ||
| ENST00000583074.5:n.376T>A | ||
| ENST00000583848.5:c.118-18T>A | ENSP00000466487.1:n.118-18T>A | |
| ENST00000583850.5:n.523-18T>A | ||
| ENST00000583858.5:c.683-18T>A | ||
| ENST00000585203.6:n.943-18T>A | ||
| NM_000018.3:c.1752-18T>A | NP_000009.1:n.1752-18T>A | |
| NM_001033859.2:c.1686-18T>A | NP_001029031.1:n.1686-18T>A | |
| NM_001270447.1:c.1821-18T>A | NP_001257376.1:n.1821-18T>A | |
| NM_001270448.1:c.1524-18T>A | NP_001257377.1:n.1524-18T>A | |
| XM_006721516.2:c.1755T>A | XP_006721579.2:p.His585Gln | |
| XM_011523829.1:c.1653T>A | XP_011522131.1:p.His551Gln | |
| XM_011523830.1:c.1650-18T>A | XP_011522132.1:n.1650-18T>A | |
| XR_934021.1:n.1855-18T>A | ||
| XR_934022.1:n.1761-18T>A | ||
| XR_934023.1:n.1764T>A | ||
| XM_006721516.3:c.1755T>A | XP_006721579.2:p.His585Gln | |
| XM_011523829.2:c.1653T>A | XP_011522131.1:p.His551Gln | |
| XM_011523830.2:c.1650-18T>A | XP_011522132.1:n.1650-18T>A | |
| XM_024450741.1:c.1740-18T>A | XP_024306509.1:n.1740-18T>A | |
| XR_934021.2:n.1807-18T>A | ||
| XR_934022.2:n.1713-18T>A | ||
| XR_934023.2:n.1716T>A | ||
| NM_000018.4:c.1752-18T>A MANE Select | NP_000009.1:n.1752-18T>A | |
| NM_001033859.3:c.1686-18T>A | NP_001029031.1:n.1686-18T>A | |
| NM_001270447.2:c.1821-18T>A | NP_001257376.1:n.1821-18T>A | |
| NM_001270448.2:c.1524-18T>A | NP_001257377.1:n.1524-18T>A |