Linked Data
ClinVar Variation Id:
2058739
ClinVar RCV Id:
RCV002952436
dbSNP Id:
rs146589640
ExAC:
17:7126179 A / G
gnomAD v3:
17-7222860-A-G
gnomAD v4:
17-7222860-A-G
ERepo:
CA8337932/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222860A>G , CM000679.2:g.7222860A>G | GRCh38 |
| NC_000017.10:g.7126179A>G , CM000679.1:g.7126179A>G | GRCh37 |
| NC_000017.9:g.7066903A>G | NCBI36 |
| NG_007975.1:g.8027A>G | |
| NG_008391.2:g.2191T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1072A>G MANE Select | ENSP00000349297.5:p.Lys358Glu | |
| ENST00000322910.9:c.*1027A>G | ENSP00000325395.5:n.*1027A>G | |
| ENST00000350303.9:c.1006A>G | ENSP00000344152.5:p.Lys336Glu | |
| ENST00000356839.9:c.1072A>G | ENSP00000349297.5:p.Lys358Glu | |
| ENST00000543245.6:c.1141A>G | ENSP00000438689.2:p.Lys381Glu | |
| ENST00000578824.5:n.221A>G | ||
| ENST00000582379.1:n.456A>G | ||
| ENST00000583858.5:c.101A>G | ||
| ENST00000585203.6:n.13A>G | ||
| NM_000018.3:c.1072A>G | NP_000009.1:p.Lys358Glu | |
| NM_001033859.2:c.1006A>G | NP_001029031.1:p.Lys336Glu | |
| NM_001270447.1:c.1141A>G | NP_001257376.1:p.Lys381Glu | |
| NM_001270448.1:c.844A>G | NP_001257377.1:p.Lys282Glu | |
| XM_006721516.2:c.1072A>G | XP_006721579.2:p.Lys358Glu | |
| XM_011523829.1:c.1072A>G | XP_011522131.1:p.Lys358Glu | |
| XM_011523830.1:c.1072A>G | XP_011522132.1:p.Lys358Glu | |
| XR_934021.1:n.1179A>G | ||
| XR_934022.1:n.1179A>G | ||
| XR_934023.1:n.1179A>G | ||
| XM_006721516.3:c.1072A>G | XP_006721579.2:p.Lys358Glu | |
| XM_011523829.2:c.1072A>G | XP_011522131.1:p.Lys358Glu | |
| XM_011523830.2:c.1072A>G | XP_011522132.1:p.Lys358Glu | |
| XM_024450741.1:c.1072A>G | XP_024306509.1:p.Lys358Glu | |
| XR_934021.2:n.1131A>G | ||
| XR_934022.2:n.1131A>G | ||
| XR_934023.2:n.1131A>G | ||
| NM_000018.4:c.1072A>G MANE Select | NP_000009.1:p.Lys358Glu | |
| NM_001033859.3:c.1006A>G | NP_001029031.1:p.Lys336Glu | |
| NM_001270447.2:c.1141A>G | NP_001257376.1:p.Lys381Glu | |
| NM_001270448.2:c.844A>G | NP_001257377.1:p.Lys282Glu |