Linked Data
dbSNP Id:
rs148782015
ExAC:
16:27454418 G / A
gnomAD v2:
16-27454418-G-A
gnomAD v3:
16-27443097-G-A
gnomAD v4:
16-27443097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27443097G>A , CM000678.2:g.27443097G>A | GRCh38 |
| NC_000016.9:g.27454418G>A , CM000678.1:g.27454418G>A | GRCh37 |
| NC_000016.8:g.27361919G>A | NCBI36 |
| NG_012222.1:g.45696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697146.1:c.*84G>A | ENSP00000513135.1:n.*84G>A | |
| ENST00000337929.8:c.488G>A MANE Select | ENSP00000338010.3:p.Arg163Gln | |
| ENST00000337929.7:c.488G>A | ENSP00000338010.3:p.Arg163Gln | |
| ENST00000395754.4:c.488G>A | ENSP00000379103.4:p.Arg163Gln | |
| ENST00000561953.1:n.428G>A | ||
| ENST00000564089.5:c.488G>A | ENSP00000456707.1:p.Arg163Gln | |
| NM_021798.3:c.488G>A | NP_068570.1:p.Arg163Gln | |
| NM_181078.2:c.488G>A | NP_851564.1:p.Arg163Gln | |
| NM_181079.4:c.554G>A | NP_851565.4:p.Arg185Gln | |
| XM_011545857.1:c.554G>A | XP_011544159.1:p.Arg185Gln | |
| XM_011545858.1:c.136-1445G>A | XP_011544160.1:n.136-1445G>A | |
| XM_011545857.3:c.554G>A | XP_011544159.1:p.Arg185Gln | |
| XM_011545858.3:c.136-1445G>A | XP_011544160.1:n.136-1445G>A | |
| XM_017023257.2:c.488G>A | XP_016878746.1:p.Arg163Gln | |
| NM_181078.3:c.488G>A MANE Select | NP_851564.1:p.Arg163Gln | |
| NM_021798.4:c.488G>A | NP_068570.1:p.Arg163Gln | |
| NM_181079.5:c.554G>A | NP_851565.4:p.Arg185Gln |