Linked Data
dbSNP Id:
rs142240483
gnomAD v2:
3-193185248-G-T
gnomAD v3:
3-193467459-G-T
gnomAD v4:
3-193467459-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467459G>T , CM000665.2:g.193467459G>T | GRCh38 |
| NC_000003.11:g.193185248G>T , CM000665.1:g.193185248G>T | GRCh37 |
| NC_000003.10:g.194667942G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.971C>A MANE Select | ENSP00000339182.4:p.Pro324Gln | |
| ENST00000295548.3:c.971C>A | ENSP00000295548.3:p.Pro324Gln | |
| ENST00000342695.8:c.971C>A | ENSP00000339182.4:p.Pro324Gln | |
| ENST00000392443.7:c.971C>A | ENSP00000376238.3:p.Pro324Gln | |
| ENST00000450950.6:c.*414C>A | ENSP00000402023.2:n.*414C>A | |
| ENST00000490925.5:n.1079C>A | ||
| NM_032279.3:c.971C>A | NP_115655.2:p.Pro324Gln | |
| XM_005247829.2:c.971C>A | XP_005247886.1:p.Pro324Gln | |
| XM_011513232.1:c.971C>A | XP_011511534.1:p.Pro324Gln | |
| XR_241512.2:n.1272C>A | ||
| XR_924191.1:n.1272C>A | ||
| XM_011513232.2:c.971C>A | XP_011511534.1:p.Pro324Gln | |
| XM_017007318.1:c.644C>A | XP_016862807.1:p.Pro215Gln | |
| XM_017007319.1:c.971C>A | XP_016862808.1:p.Pro324Gln | |
| XR_001740324.2:n.1041C>A | ||
| XR_001740325.1:n.1041C>A | ||
| XR_002959602.1:n.1205C>A | ||
| XR_924191.3:n.1041C>A | ||
| NM_032279.4:c.971C>A MANE Select | NP_115655.2:p.Pro324Gln |