Linked Data
ClinVar Variation Id:
240123
dbSNP Id:
rs2020953
ExAC:
16:14041916 A / G
gnomAD v2:
16-14041916-A-G
gnomAD v3:
16-13948059-A-G
gnomAD v4:
16-13948059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948059A>G , CM000678.2:g.13948059A>G | GRCh38 |
| NC_000016.9:g.14041916A>G , CM000678.1:g.14041916A>G | GRCh37 |
| NC_000016.8:g.13949417A>G | NCBI36 |
| NG_011442.1:g.32903A>G , LRG_463:g.32903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2601A>G | ENSP00000507912.1:p.Pro867= | |
| ENST00000683962.1:c.*2157A>G | ENSP00000506854.1:n.*2157A>G | |
| ENST00000311895.8:c.2463A>G MANE Select | ENSP00000310520.7:p.Pro821= | |
| ENST00000311895.7:c.2463A>G | ENSP00000310520.7:p.Pro821= | |
| ENST00000389138.7:n.1740A>G | ||
| NM_005236.2:c.2463A>G , LRG_463t1:c.2463A>G | NP_005227.1:p.Pro821= | |
| XM_011522424.1:c.2601A>G | XP_011520726.1:p.Pro867= | |
| XM_011522425.1:c.1920A>G | XP_011520727.1:p.Pro640= | |
| XM_011522426.1:c.1674A>G | XP_011520728.1:p.Pro558= | |
| XM_011522427.1:c.1113A>G | XP_011520729.1:p.Pro371= | |
| XR_932805.1:n.2622A>G | ||
| XM_011522424.3:c.2601A>G | XP_011520726.1:p.Pro867= | |
| XM_017023043.2:c.1674A>G | XP_016878532.1:p.Pro558= | |
| NM_005236.3:c.2463A>G MANE Select | NP_005227.1:p.Pro821= |