Linked Data
dbSNP Id:
rs764730051
ExAC:
16:14029477 C / G
gnomAD v2:
16-14029477-C-G
gnomAD v3:
16-13935620-C-G
gnomAD v4:
16-13935620-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935620C>G , CM000678.2:g.13935620C>G | GRCh38 |
| NC_000016.9:g.14029477C>G , CM000678.1:g.14029477C>G | GRCh37 |
| NC_000016.8:g.13936978C>G | NCBI36 |
| NG_011442.1:g.20464C>G , LRG_463:g.20464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1766C>G | ||
| ENST00000682617.1:c.1826C>G | ENSP00000507912.1:p.Pro609Arg | |
| ENST00000682826.1:c.*1002C>G | ENSP00000507274.1:n.*1002C>G | |
| ENST00000682909.1:n.3728C>G | ||
| ENST00000683277.1:n.3333C>G | ||
| ENST00000683407.1:n.1696C>G | ||
| ENST00000683962.1:c.*1382C>G | ENSP00000506854.1:n.*1382C>G | |
| ENST00000311895.8:c.1688C>G MANE Select | ENSP00000310520.7:p.Pro563Arg | |
| ENST00000311895.7:c.1688C>G | ENSP00000310520.7:p.Pro563Arg | |
| ENST00000389138.7:n.965C>G | ||
| NM_005236.2:c.1688C>G , LRG_463t1:c.1688C>G | NP_005227.1:p.Pro563Arg | |
| XM_011522424.1:c.1826C>G | XP_011520726.1:p.Pro609Arg | |
| XM_011522425.1:c.1145C>G | XP_011520727.1:p.Pro382Arg | |
| XM_011522426.1:c.899C>G | XP_011520728.1:p.Pro300Arg | |
| XM_011522427.1:c.338C>G | XP_011520729.1:p.Pro113Arg | |
| XR_932805.1:n.1847C>G | ||
| XM_011522424.3:c.1826C>G | XP_011520726.1:p.Pro609Arg | |
| XM_017023043.2:c.899C>G | XP_016878532.1:p.Pro300Arg | |
| NM_005236.3:c.1688C>G MANE Select | NP_005227.1:p.Pro563Arg |