Linked Data
ClinVar Variation Id:
2744271
ClinVar RCV Id:
RCV003497662
dbSNP Id:
rs139425622
ExAC:
17:7127674 G / T
gnomAD v2:
17-7127674-G-T
gnomAD v4:
17-7224355-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224355G>T , CM000679.2:g.7224355G>T | GRCh38 |
| NC_000017.10:g.7127674G>T , CM000679.1:g.7127674G>T | GRCh37 |
| NC_000017.9:g.7068398G>T | NCBI36 |
| NG_007975.1:g.9522G>T | |
| NG_008391.2:g.696C>A | |
| NG_033038.1:g.15190C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1567G>T MANE Select | ENSP00000349297.5:p.Gly523Ter | |
| ENST00000322910.9:c.*1522G>T | ENSP00000325395.5:n.*1522G>T | |
| ENST00000350303.9:c.1501G>T | ENSP00000344152.5:p.Gly501Ter | |
| ENST00000356839.9:c.1567G>T | ENSP00000349297.5:p.Gly523Ter | |
| ENST00000542255.6:c.425G>T | ||
| ENST00000543245.6:c.1636G>T | ENSP00000438689.2:p.Gly546Ter | |
| ENST00000578319.5:n.62G>T | ||
| ENST00000578711.1:n.851G>T | ||
| ENST00000578809.5:n.139G>T | ||
| ENST00000579391.1:n.175G>T | ||
| ENST00000579425.5:n.683G>T | ||
| ENST00000579546.1:c.306G>T | ||
| ENST00000579894.5:n.354G>T | ||
| ENST00000582450.1:n.75G>T | ||
| ENST00000583074.5:n.188G>T | ||
| ENST00000583850.5:n.342G>T | ||
| ENST00000583858.5:c.498G>T | ||
| ENST00000585203.6:n.758G>T | ||
| NM_000018.3:c.1567G>T | NP_000009.1:p.Gly523Ter | |
| NM_001033859.2:c.1501G>T | NP_001029031.1:p.Gly501Ter | |
| NM_001270447.1:c.1636G>T | NP_001257376.1:p.Gly546Ter | |
| NM_001270448.1:c.1339G>T | NP_001257377.1:p.Gly447Ter | |
| XM_006721516.2:c.1567G>T | XP_006721579.2:p.Gly523Ter | |
| XM_011523829.1:c.1469G>T | XP_011522131.1:p.Arg490Leu | |
| XM_011523830.1:c.1469G>T | XP_011522132.1:p.Arg490Leu | |
| XR_934021.1:n.1674G>T | ||
| XR_934022.1:n.1576G>T | ||
| XR_934023.1:n.1576G>T | ||
| XM_006721516.3:c.1567G>T | XP_006721579.2:p.Gly523Ter | |
| XM_011523829.2:c.1469G>T | XP_011522131.1:p.Arg490Leu | |
| XM_011523830.2:c.1469G>T | XP_011522132.1:p.Arg490Leu | |
| XM_024450741.1:c.1469G>T | XP_024306509.1:p.Arg490Leu | |
| XR_934021.2:n.1626G>T | ||
| XR_934022.2:n.1528G>T | ||
| XR_934023.2:n.1528G>T | ||
| NM_000018.4:c.1567G>T MANE Select | NP_000009.1:p.Gly523Ter | |
| NM_001033859.3:c.1501G>T | NP_001029031.1:p.Gly501Ter | |
| NM_001270447.2:c.1636G>T | NP_001257376.1:p.Gly546Ter | |
| NM_001270448.2:c.1339G>T | NP_001257377.1:p.Gly447Ter |