Linked Data
dbSNP Id:
rs1274511762
gnomAD v2:
3-133494369-G-A
gnomAD v3:
3-133775525-G-A
gnomAD v4:
3-133775525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775525G>A , CM000665.2:g.133775525G>A | GRCh38 |
| NC_000003.11:g.133494369G>A , CM000665.1:g.133494369G>A | GRCh37 |
| NC_000003.10:g.134977059G>A | NCBI36 |
| NG_013080.1:g.34393G>A | |
| NG_013080.2:g.118528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1780G>A MANE Select | ENSP00000385834.3:p.Ala594Thr | |
| ENST00000402696.7:c.1780G>A | ENSP00000385834.3:p.Ala594Thr | |
| ENST00000461695.1:c.511G>A | ||
| ENST00000467842.1:n.2774G>A | ||
| NM_001063.3:c.1780G>A | NP_001054.1:p.Ala594Thr | |
| XM_011513100.1:c.1780G>A | XP_011511402.1:p.Ala594Thr | |
| NM_001354703.1:c.1648G>A | NP_001341632.1:p.Ala550Thr | |
| NM_001354704.1:c.1399G>A | NP_001341633.1:p.Ala467Thr | |
| NM_001063.4:c.1780G>A MANE Select | NP_001054.2:p.Ala594Thr | |
| NM_001354703.2:c.1648G>A | NP_001341632.2:p.Ala550Thr | |
| NM_001354704.2:c.1399G>A | NP_001341633.2:p.Ala467Thr |