Linked Data
ClinVar Variation Id:
579856
dbSNP Id:
rs139427392
ExAC:
17:7124093 G / A
gnomAD v2:
17-7124093-G-A
gnomAD v3:
17-7220774-G-A
gnomAD v4:
17-7220774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220774G>A , CM000679.2:g.7220774G>A | GRCh38 |
| NC_000017.10:g.7124093G>A , CM000679.1:g.7124093G>A | GRCh37 |
| NC_000017.9:g.7064817G>A | NCBI36 |
| NG_007975.1:g.5941G>A | |
| NG_008391.2:g.4277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.286G>A MANE Select | ENSP00000349297.5:p.Glu96Lys | |
| ENST00000322910.9:c.*241G>A | ENSP00000325395.5:n.*241G>A | |
| ENST00000350303.9:c.220G>A | ENSP00000344152.5:p.Glu74Lys | |
| ENST00000356839.9:c.286G>A | ENSP00000349297.5:p.Glu96Lys | |
| ENST00000543245.6:c.355G>A | ENSP00000438689.2:p.Glu119Lys | |
| ENST00000577191.5:n.363G>A | ||
| ENST00000577433.5:n.494G>A | ||
| ENST00000577857.5:n.237G>A | ||
| ENST00000579286.5:n.467G>A | ||
| ENST00000579886.2:c.202-171G>A | ENSP00000463246.1:n.202-171G>A | |
| ENST00000580263.5:n.539G>A | ||
| ENST00000580365.1:n.17G>A | ||
| ENST00000581562.5:n.333G>A | ||
| ENST00000582056.5:n.376G>A | ||
| ENST00000582166.1:n.174G>A | ||
| ENST00000582356.5:n.485G>A | ||
| ENST00000583312.5:c.286G>A | ENSP00000467920.1:p.Glu96Lys | |
| ENST00000584103.5:c.286G>A | ENSP00000465353.1:p.Glu96Lys | |
| NM_000018.3:c.286G>A | NP_000009.1:p.Glu96Lys | |
| NM_001033859.2:c.220G>A | NP_001029031.1:p.Glu74Lys | |
| NM_001270447.1:c.355G>A | NP_001257376.1:p.Glu119Lys | |
| NM_001270448.1:c.58G>A | NP_001257377.1:p.Glu20Lys | |
| XM_006721516.2:c.286G>A | XP_006721579.2:p.Glu96Lys | |
| XM_011523829.1:c.286G>A | XP_011522131.1:p.Glu96Lys | |
| XM_011523830.1:c.286G>A | XP_011522132.1:p.Glu96Lys | |
| XR_934021.1:n.393G>A | ||
| XR_934022.1:n.393G>A | ||
| XR_934023.1:n.393G>A | ||
| XM_006721516.3:c.286G>A | XP_006721579.2:p.Glu96Lys | |
| XM_011523829.2:c.286G>A | XP_011522131.1:p.Glu96Lys | |
| XM_011523830.2:c.286G>A | XP_011522132.1:p.Glu96Lys | |
| XM_024450741.1:c.286G>A | XP_024306509.1:p.Glu96Lys | |
| XR_934021.2:n.345G>A | ||
| XR_934022.2:n.345G>A | ||
| XR_934023.2:n.345G>A | ||
| NM_000018.4:c.286G>A MANE Select | NP_000009.1:p.Glu96Lys | |
| NM_001033859.3:c.220G>A | NP_001029031.1:p.Glu74Lys | |
| NM_001270447.2:c.355G>A | NP_001257376.1:p.Glu119Lys | |
| NM_001270448.2:c.58G>A | NP_001257377.1:p.Glu20Lys |