Linked Data
dbSNP Id:
rs750858508
ExAC:
16:14038704 A / G
gnomAD v2:
16-14038704-A-G
gnomAD v4:
16-13944847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944847A>G , CM000678.2:g.13944847A>G | GRCh38 |
| NC_000016.9:g.14038704A>G , CM000678.1:g.14038704A>G | GRCh37 |
| NC_000016.8:g.13946205A>G | NCBI36 |
| NG_011442.1:g.29691A>G , LRG_463:g.29691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2155+12A>G | ENSP00000507912.1:n.2155+12A>G | |
| ENST00000683962.1:c.*1711+12A>G | ENSP00000506854.1:n.*1711+12A>G | |
| ENST00000311895.8:c.2017+12A>G MANE Select | ENSP00000310520.7:n.2017+12A>G | |
| ENST00000311895.7:c.2017+12A>G | ENSP00000310520.7:n.2017+12A>G | |
| ENST00000389138.7:n.1294+12A>G | ||
| ENST00000462862.1:c.330+12A>G | ENSP00000461322.1:n.330+12A>G | |
| NM_005236.2:c.2017+12A>G , LRG_463t1:c.2017+12A>G | NP_005227.1:n.2017+12A>G | |
| XM_011522424.1:c.2155+12A>G | XP_011520726.1:n.2155+12A>G | |
| XM_011522425.1:c.1474+12A>G | XP_011520727.1:n.1474+12A>G | |
| XM_011522426.1:c.1228+12A>G | XP_011520728.1:n.1228+12A>G | |
| XM_011522427.1:c.667+12A>G | XP_011520729.1:n.667+12A>G | |
| XR_932805.1:n.2176+12A>G | ||
| XM_011522424.3:c.2155+12A>G | XP_011520726.1:n.2155+12A>G | |
| XM_017023043.2:c.1228+12A>G | XP_016878532.1:n.1228+12A>G | |
| NM_005236.3:c.2017+12A>G MANE Select | NP_005227.1:n.2017+12A>G |