Linked Data
dbSNP Id:
rs146419443
ExAC:
1:202097399 C / A
gnomAD v2:
1-202097399-C-A
gnomAD v3:
1-202128271-C-A
gnomAD v4:
1-202128271-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128271C>A , CM000663.2:g.202128271C>A | GRCh38 |
| NC_000001.10:g.202097399C>A , CM000663.1:g.202097399C>A | GRCh37 |
| NC_000001.9:g.200364022C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.742C>A | ||
| ENST00000682545.1:c.*167C>A | ENSP00000508402.1:n.*167C>A | |
| ENST00000682887.1:c.1562C>A | ENSP00000506946.1:n.1562C>A | |
| ENST00000683302.1:c.1092C>A | ENSP00000507885.1:p.Thr364= | |
| ENST00000683557.1:c.752C>A | ENSP00000508029.1:p.Pro251Gln | |
| ENST00000367282.6:c.1161C>A MANE Select | ENSP00000356251.4:p.Thr387= | |
| ENST00000367282.5:c.1161C>A | ENSP00000356251.4:p.Thr387= | |
| NM_004767.3:c.1161C>A | NP_004758.3:p.Thr387= | |
| XM_011510158.1:c.600C>A | XP_011508460.1:p.Thr200= | |
| NM_004767.4:c.1161C>A | NP_004758.3:p.Thr387= | |
| XM_011510158.2:c.600C>A | XP_011508460.1:p.Thr200= | |
| NM_004767.5:c.1161C>A MANE Select | NP_004758.3:p.Thr387= |