Linked Data
ClinVar Variation Id:
474901
ClinVar RCV Id:
RCV000556767
dbSNP Id:
rs1432183079
gnomAD v2:
17-7125300-G-A
gnomAD v3:
17-7221981-G-A
gnomAD v4:
17-7221981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221981G>A , CM000679.2:g.7221981G>A | GRCh38 |
| NC_000017.10:g.7125300G>A , CM000679.1:g.7125300G>A | GRCh37 |
| NC_000017.9:g.7066024G>A | NCBI36 |
| NG_007975.1:g.7148G>A | |
| NG_008391.2:g.3070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.652G>A MANE Select | ENSP00000349297.5:p.Glu218Lys | |
| ENST00000322910.9:c.*607G>A | ENSP00000325395.5:n.*607G>A | |
| ENST00000350303.9:c.586G>A | ENSP00000344152.5:p.Glu196Lys | |
| ENST00000356839.9:c.652G>A | ENSP00000349297.5:p.Glu218Lys | |
| ENST00000543245.6:c.721G>A | ENSP00000438689.2:p.Glu241Lys | |
| ENST00000577191.5:n.729G>A | ||
| ENST00000577857.5:n.468G>A | ||
| ENST00000579286.5:n.833G>A | ||
| ENST00000580365.1:n.383G>A | ||
| ENST00000581378.5:c.370G>A | ||
| ENST00000581562.5:n.554G>A | ||
| ENST00000582379.1:n.36G>A | ||
| ENST00000583312.5:c.667G>A | ENSP00000467920.1:p.Glu223Lys | |
| ENST00000583760.1:n.434G>A | ||
| NM_000018.3:c.652G>A | NP_000009.1:p.Glu218Lys | |
| NM_001033859.2:c.586G>A | NP_001029031.1:p.Glu196Lys | |
| NM_001270447.1:c.721G>A | NP_001257376.1:p.Glu241Lys | |
| NM_001270448.1:c.424G>A | NP_001257377.1:p.Glu142Lys | |
| XM_006721516.2:c.652G>A | XP_006721579.2:p.Glu218Lys | |
| XM_011523829.1:c.652G>A | XP_011522131.1:p.Glu218Lys | |
| XM_011523830.1:c.652G>A | XP_011522132.1:p.Glu218Lys | |
| XR_934021.1:n.759G>A | ||
| XR_934022.1:n.759G>A | ||
| XR_934023.1:n.759G>A | ||
| XM_006721516.3:c.652G>A | XP_006721579.2:p.Glu218Lys | |
| XM_011523829.2:c.652G>A | XP_011522131.1:p.Glu218Lys | |
| XM_011523830.2:c.652G>A | XP_011522132.1:p.Glu218Lys | |
| XM_024450741.1:c.652G>A | XP_024306509.1:p.Glu218Lys | |
| XR_934021.2:n.711G>A | ||
| XR_934022.2:n.711G>A | ||
| XR_934023.2:n.711G>A | ||
| NM_000018.4:c.652G>A MANE Select | NP_000009.1:p.Glu218Lys | |
| NM_001033859.3:c.586G>A | NP_001029031.1:p.Glu196Lys | |
| NM_001270447.2:c.721G>A | NP_001257376.1:p.Glu241Lys | |
| NM_001270448.2:c.424G>A | NP_001257377.1:p.Glu142Lys |