Linked Data
ClinVar Variation Id:
12617
dbSNP Id:
rs1049296
ExAC:
3:133494354 C / T
gnomAD v2:
3-133494354-C-T
gnomAD v3:
3-133775510-C-T
gnomAD v4:
3-133775510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775510C>T , CM000665.2:g.133775510C>T | GRCh38 |
| NC_000003.11:g.133494354C>T , CM000665.1:g.133494354C>T | GRCh37 |
| NC_000003.10:g.134977044C>T | NCBI36 |
| NG_013080.1:g.34378C>T | |
| NG_013080.2:g.118513C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1765C>T MANE Select | ENSP00000385834.3:p.Pro589Ser | |
| ENST00000402696.7:c.1765C>T | ENSP00000385834.3:p.Pro589Ser | |
| ENST00000461695.1:c.496C>T | ||
| ENST00000467842.1:n.2759C>T | ||
| NM_001063.3:c.1765C>T | NP_001054.1:p.Pro589Ser | |
| XM_011513100.1:c.1765C>T | XP_011511402.1:p.Pro589Ser | |
| NM_001354703.1:c.1633C>T | NP_001341632.1:p.Pro545Ser | |
| NM_001354704.1:c.1384C>T | NP_001341633.1:p.Pro462Ser | |
| NM_001063.4:c.1765C>T MANE Select | NP_001054.2:p.Pro589Ser | |
| NM_001354703.2:c.1633C>T | NP_001341632.2:p.Pro545Ser | |
| NM_001354704.2:c.1384C>T | NP_001341633.2:p.Pro462Ser |