Linked Data
ClinVar Variation Id:
92285
dbSNP Id:
rs370169077
ExAC:
17:7124874 G / T
gnomAD v2:
17-7124874-G-T
gnomAD v3:
17-7221555-G-T
gnomAD v4:
17-7221555-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221555G>T , CM000679.2:g.7221555G>T | GRCh38 |
| NC_000017.10:g.7124874G>T , CM000679.1:g.7124874G>T | GRCh37 |
| NC_000017.9:g.7065598G>T | NCBI36 |
| NG_007975.1:g.6722G>T | |
| NG_008391.2:g.3496C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.495G>T MANE Select | ENSP00000349297.5:p.Glu165Asp | |
| ENST00000322910.9:c.*450G>T | ENSP00000325395.5:n.*450G>T | |
| ENST00000350303.9:c.429G>T | ENSP00000344152.5:p.Glu143Asp | |
| ENST00000356839.9:c.495G>T | ENSP00000349297.5:p.Glu165Asp | |
| ENST00000543245.6:c.564G>T | ENSP00000438689.2:p.Glu188Asp | |
| ENST00000577191.5:n.572G>T | ||
| ENST00000577433.5:n.703G>T | ||
| ENST00000577857.5:n.311G>T | ||
| ENST00000579286.5:n.676G>T | ||
| ENST00000579886.2:c.333G>T | ENSP00000463246.1:p.Glu111Asp | |
| ENST00000580365.1:n.226G>T | ||
| ENST00000581378.5:c.213G>T | ||
| ENST00000581562.5:n.525-397G>T | ||
| ENST00000582166.1:n.476G>T | ||
| ENST00000583312.5:c.495G>T | ENSP00000467920.1:p.Glu165Asp | |
| ENST00000583760.1:n.277G>T | ||
| NM_000018.3:c.495G>T | NP_000009.1:p.Glu165Asp | |
| NM_001033859.2:c.429G>T | NP_001029031.1:p.Glu143Asp | |
| NM_001270447.1:c.564G>T | NP_001257376.1:p.Glu188Asp | |
| NM_001270448.1:c.267G>T | NP_001257377.1:p.Glu89Asp | |
| XM_006721516.2:c.495G>T | XP_006721579.2:p.Glu165Asp | |
| XM_011523829.1:c.495G>T | XP_011522131.1:p.Glu165Asp | |
| XM_011523830.1:c.495G>T | XP_011522132.1:p.Glu165Asp | |
| XR_934021.1:n.602G>T | ||
| XR_934022.1:n.602G>T | ||
| XR_934023.1:n.602G>T | ||
| XM_006721516.3:c.495G>T | XP_006721579.2:p.Glu165Asp | |
| XM_011523829.2:c.495G>T | XP_011522131.1:p.Glu165Asp | |
| XM_011523830.2:c.495G>T | XP_011522132.1:p.Glu165Asp | |
| XM_024450741.1:c.495G>T | XP_024306509.1:p.Glu165Asp | |
| XR_934021.2:n.554G>T | ||
| XR_934022.2:n.554G>T | ||
| XR_934023.2:n.554G>T | ||
| NM_000018.4:c.495G>T MANE Select | NP_000009.1:p.Glu165Asp | |
| NM_001033859.3:c.429G>T | NP_001029031.1:p.Glu143Asp | |
| NM_001270447.2:c.564G>T | NP_001257376.1:p.Glu188Asp | |
| NM_001270448.2:c.267G>T | NP_001257377.1:p.Glu89Asp |