Linked Data
dbSNP Id:
rs8052655
ExAC:
16:67409180 G / A
gnomAD v2:
16-67409180-G-A
gnomAD v3:
16-67375277-G-A
gnomAD v4:
16-67375277-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67375277G>A , CM000678.2:g.67375277G>A | GRCh38 |
| NC_000016.9:g.67409180G>A , CM000678.1:g.67409180G>A | GRCh37 |
| NC_000016.8:g.65966681G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329956.11:c.1525G>A MANE Select | ENSP00000329943.6:p.Gly509Ser | |
| ENST00000329956.10:c.1525G>A | ENSP00000329943.6:p.Gly509Ser | |
| ENST00000435835.3:c.1132-3312G>A | ENSP00000411122.3:n.1132-3312G>A | |
| ENST00000563189.5:c.1162G>A | ENSP00000455103.1:p.Gly388Ser | |
| ENST00000565019.6:c.1072-38G>A | ||
| ENST00000567723.5:c.*851G>A | ENSP00000455799.1:n.*851G>A | |
| ENST00000567823.5:c.*20G>A | ENSP00000456164.1:n.*20G>A | |
| ENST00000568010.5:c.*265G>A | ENSP00000455018.1:n.*265G>A | |
| NM_001161575.1:c.1162G>A | NP_001155047.1:p.Gly388Ser | |
| NM_018296.5:c.1525G>A | NP_060766.5:p.Gly509Ser | |
| XM_005256025.2:c.1525G>A | XP_005256082.1:p.Gly509Ser | |
| XM_005256026.2:c.1084G>A | XP_005256083.1:p.Gly362Ser | |
| XM_005256027.2:c.1525G>A | XP_005256084.1:p.Gly509Ser | |
| XM_005256028.1:c.1021G>A | XP_005256085.1:p.Gly341Ser | |
| XM_011523199.1:c.1525G>A | XP_011521501.1:p.Gly509Ser | |
| XM_011523200.1:c.1525G>A | XP_011521502.1:p.Gly509Ser | |
| XM_011523201.1:c.1021G>A | XP_011521503.1:p.Gly341Ser | |
| XM_011523202.1:c.1018G>A | XP_011521504.1:p.Gly340Ser | |
| XM_011523203.1:c.907G>A | XP_011521505.1:p.Gly303Ser | |
| XM_011523204.1:c.799G>A | XP_011521506.1:p.Gly267Ser | |
| XM_011523205.1:c.799G>A | XP_011521507.1:p.Gly267Ser | |
| XR_243416.2:n.1544G>A | ||
| XR_429723.1:n.1533G>A | ||
| XM_011523202.2:c.1018G>A | XP_011521504.1:p.Gly340Ser | |
| XM_017023400.2:c.1525G>A | XP_016878889.1:p.Gly509Ser | |
| XM_017023401.1:c.774G>A | XP_016878890.1:p.Thr258= | |
| XM_017023402.1:c.597G>A | XP_016878891.1:p.Thr199= | |
| XM_024450338.1:c.799G>A | XP_024306106.1:p.Gly267Ser | |
| NM_018296.6:c.1525G>A MANE Select | NP_060766.5:p.Gly509Ser | |
| NM_001161575.2:c.1162G>A | NP_001155047.1:p.Gly388Ser |