Linked Data
ClinVar Variation Id:
366695
ClinVar RCV Id:
RCV000401036
dbSNP Id:
rs560719255
ExAC:
9:34517463 A / G
gnomAD v2:
9-34517463-A-G
gnomAD v3:
9-34517465-A-G
gnomAD v4:
9-34517465-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517465A>G , CM000671.2:g.34517465A>G | GRCh38 |
| NC_000009.11:g.34517463A>G , CM000671.1:g.34517463A>G | GRCh37 |
| NC_000009.10:g.34507463A>G | NCBI36 |
| NG_008127.1:g.63653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1999A>G MANE Select | ENSP00000242317.4:p.Lys667Glu | |
| ENST00000242317.8:c.1999A>G | ENSP00000242317.4:p.Lys667Glu | |
| ENST00000442556.1:c.329+2726A>G | ||
| ENST00000470169.5:c.787A>G | ||
| ENST00000485580.1:n.575A>G | ||
| ENST00000614641.4:c.2011A>G | ENSP00000480538.1:p.Lys671Glu | |
| NM_001281428.1:c.2011A>G | NP_001268357.1:p.Lys671Glu | |
| NM_012144.3:c.1999A>G | NP_036276.1:p.Lys667Glu | |
| XM_006716758.2:c.1468A>G | XP_006716821.1:p.Lys490Glu | |
| XM_011517848.1:c.1753A>G | XP_011516150.1:p.Lys585Glu | |
| XM_006716758.3:c.1468A>G | XP_006716821.1:p.Lys490Glu | |
| XM_011517848.2:c.1753A>G | XP_011516150.1:p.Lys585Glu | |
| XM_017014625.2:c.1741A>G | XP_016870114.1:p.Lys581Glu | |
| XR_002956774.1:n.2102A>G | ||
| NM_012144.4:c.1999A>G MANE Select | NP_036276.1:p.Lys667Glu | |
| NM_001281428.2:c.2011A>G | NP_001268357.1:p.Lys671Glu |