Linked Data
dbSNP Id:
rs762811498
ExAC:
1:202097452 C / A
gnomAD v2:
1-202097452-C-A
gnomAD v3:
1-202128324-C-A
gnomAD v4:
1-202128324-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128324C>A , CM000663.2:g.202128324C>A | GRCh38 |
| NC_000001.10:g.202097452C>A , CM000663.1:g.202097452C>A | GRCh37 |
| NC_000001.9:g.200364075C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.795C>A | ||
| ENST00000682545.1:c.*220C>A | ENSP00000508402.1:n.*220C>A | |
| ENST00000682887.1:c.1615C>A | ENSP00000506946.1:n.1615C>A | |
| ENST00000683302.1:c.1145C>A | ENSP00000507885.1:p.Thr382Asn | |
| ENST00000683557.1:c.*46C>A | ENSP00000508029.1:n.*46C>A | |
| ENST00000367282.6:c.1214C>A MANE Select | ENSP00000356251.4:p.Thr405Asn | |
| ENST00000367282.5:c.1214C>A | ENSP00000356251.4:p.Thr405Asn | |
| NM_004767.3:c.1214C>A | NP_004758.3:p.Thr405Asn | |
| XM_011510158.1:c.653C>A | XP_011508460.1:p.Thr218Asn | |
| NM_004767.4:c.1214C>A | NP_004758.3:p.Thr405Asn | |
| XM_011510158.2:c.653C>A | XP_011508460.1:p.Thr218Asn | |
| NM_004767.5:c.1214C>A MANE Select | NP_004758.3:p.Thr405Asn |