Linked Data
ClinVar Variation Id:
260957
dbSNP Id:
rs201166295
ExAC:
17:78058779 G / A
gnomAD v2:
17-78058779-G-A
gnomAD v3:
17-80084980-G-A
gnomAD v4:
17-80084980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80084980G>A , CM000679.2:g.80084980G>A | GRCh38 |
| NC_000017.10:g.78058779G>A , CM000679.1:g.78058779G>A | GRCh37 |
| NC_000017.9:g.75673374G>A | NCBI36 |
| NG_029761.1:g.53349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2227G>A MANE Select | ENSP00000380679.4:p.Glu743Lys | |
| ENST00000374877.7:c.2227G>A | ENSP00000364011.3:p.Glu743Lys | |
| ENST00000397545.8:c.2227G>A | ENSP00000380679.4:p.Glu743Lys | |
| ENST00000572253.5:n.854G>A | ||
| ENST00000574799.5:n.1764G>A | ||
| NM_001243342.1:c.2227G>A | NP_001230271.1:p.Glu743Lys | |
| NM_017950.3:c.2227G>A | NP_060420.2:p.Glu743Lys | |
| XM_011524963.1:c.2137G>A | XP_011523265.1:p.Glu713Lys | |
| XM_011524964.1:c.1048G>A | XP_011523266.1:p.Glu350Lys | |
| XR_934495.1:n.2258G>A | ||
| XM_011524963.3:c.2137G>A | XP_011523265.1:p.Glu713Lys | |
| XM_011524964.3:c.1048G>A | XP_011523266.1:p.Glu350Lys | |
| XM_024450821.1:c.2137G>A | XP_024306589.1:p.Glu713Lys | |
| XR_001752550.2:n.2258G>A | ||
| XR_934495.2:n.2258G>A | ||
| NM_017950.4:c.2227G>A MANE Select | NP_060420.2:p.Glu743Lys | |
| NM_001243342.2:c.2227G>A | NP_001230271.1:p.Glu743Lys |