Linked Data
ClinVar Variation Id:
39139
dbSNP Id:
rs7308720
ExAC:
12:40657700 C / G
gnomAD v2:
12-40657700-C-G
gnomAD v3:
12-40263898-C-G
gnomAD v4:
12-40263898-C-G
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40263898C>G , CM000674.2:g.40263898C>G | GRCh38 |
| NC_000012.11:g.40657700C>G , CM000674.1:g.40657700C>G | GRCh37 |
| NC_000012.10:g.38943967C>G | NCBI36 |
| NG_011709.1:g.43888C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.1653C>G MANE Select | ENSP00000298910.7:p.Asn551Lys | |
| ENST00000679360.1:c.*562C>G | ENSP00000505368.1:n.*562C>G | |
| ENST00000680790.1:c.1398C>G | ENSP00000505335.1:p.Asn466Lys | |
| ENST00000298910.11:c.1653C>G | ENSP00000298910.7:p.Asn551Lys | |
| ENST00000343742.6:c.1653C>G | ENSP00000341930.2:p.Asn551Lys | |
| ENST00000416796.5:c.897C>G | ENSP00000398726.1:p.Asn299Lys | |
| NM_198578.3:c.1653C>G | NP_940980.3:p.Asn551Lys | |
| XM_005268629.2:c.1653C>G | XP_005268686.1:p.Asn551Lys | |
| XM_011537877.1:c.1653C>G | XP_011536179.1:p.Asn551Lys | |
| XM_011537878.1:c.1653C>G | XP_011536180.1:p.Asn551Lys | |
| XM_011537879.1:c.450C>G | XP_011536181.1:p.Asn150Lys | |
| XM_011537880.1:c.1653C>G | XP_011536182.1:p.Asn551Lys | |
| XM_011537881.1:c.1653C>G | XP_011536183.1:p.Asn551Lys | |
| XM_011537882.1:c.1653C>G | XP_011536184.1:p.Asn551Lys | |
| XM_005268629.4:c.1653C>G | XP_005268686.1:p.Asn551Lys | |
| XM_011537877.3:c.1653C>G | XP_011536179.1:p.Asn551Lys | |
| XM_011537881.3:c.1653C>G | XP_011536183.1:p.Asn551Lys | |
| XM_011537882.3:c.1653C>G | XP_011536184.1:p.Asn551Lys | |
| XM_017018786.2:c.1653C>G | XP_016874275.1:p.Asn551Lys | |
| XM_017018789.2:c.1653C>G | XP_016874278.1:p.Asn551Lys | |
| XM_024448833.1:c.450C>G | XP_024304601.1:p.Asn150Lys | |
| XR_001748574.2:n.1895C>G | ||
| NM_198578.4:c.1653C>G MANE Select | NP_940980.4:p.Asn551Lys |