Linked Data
ClinVar Variation Id:
541260
dbSNP Id:
rs1040190748
gnomAD v2:
3-25761657-G-A
gnomAD v3:
3-25720166-G-A
gnomAD v4:
3-25720166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25720166G>A , CM000665.2:g.25720166G>A | GRCh38 |
| NC_000003.11:g.25761657G>A , CM000665.1:g.25761657G>A | GRCh37 |
| NC_000003.10:g.25736661G>A | NCBI36 |
| NG_034108.1:g.74874C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280700.10:c.1637C>T MANE Select | ENSP00000280700.5:p.Ser546Leu | |
| ENST00000463611.2:c.*1728C>T | ENSP00000501918.1:n.*1728C>T | |
| ENST00000674841.1:n.1760C>T | ||
| ENST00000675178.1:n.898C>T | ||
| ENST00000675217.1:c.*1010C>T | ENSP00000502195.1:n.*1010C>T | |
| ENST00000675234.1:c.*1134C>T | ENSP00000502740.1:n.*1134C>T | |
| ENST00000675680.1:c.951C>T | ||
| ENST00000676225.1:c.1607C>T | ENSP00000501622.1:p.Ser536Leu | |
| ENST00000280699.13:c.1388C>T | ||
| ENST00000280700.9:c.1637C>T | ENSP00000280700.5:p.Ser546Leu | |
| ENST00000308710.9:c.1574C>T | ENSP00000307980.5:p.Ser525Leu | |
| ENST00000396649.7:c.1612-531C>T | ENSP00000379886.3:n.1612-531C>T | |
| ENST00000417874.6:c.1511C>T | ENSP00000389888.2:p.Ser504Leu | |
| ENST00000428257.5:c.1583C>T | ENSP00000387430.1:p.Ser528Leu | |
| ENST00000467224.5:n.325C>T | ||
| ENST00000489271.5:n.1444C>T | ||
| ENST00000493324.5:n.2540C>T | ||
| ENST00000496726.5:n.2687C>T | ||
| NM_001145293.1:c.1583C>T | NP_001138765.1:p.Ser528Leu | |
| NM_001145294.1:c.1511C>T | NP_001138766.1:p.Ser504Leu | |
| NM_001145295.1:c.1612-531C>T | NP_001138767.1:n.1612-531C>T | |
| NM_018297.3:c.1637C>T | NP_060767.2:p.Ser546Leu | |
| XM_005265316.1:c.1472C>T | XP_005265373.1:p.Ser491Leu | |
| XM_005265317.1:c.1447-531C>T | XP_005265374.1:n.1447-531C>T | |
| XM_011533944.1:c.1406C>T | XP_011532246.1:p.Ser469Leu | |
| XR_940470.1:n.1933C>T | ||
| XR_940471.1:n.1782C>T | ||
| XR_001740200.2:n.1617C>T | ||
| XR_002959548.1:n.1544C>T | ||
| XR_940471.2:n.1782C>T | ||
| NM_018297.4:c.1637C>T MANE Select | NP_060767.2:p.Ser546Leu | |
| NM_001145293.2:c.1583C>T | NP_001138765.1:p.Ser528Leu | |
| NM_001145294.2:c.1511C>T | NP_001138766.1:p.Ser504Leu | |
| NM_001145295.2:c.1612-531C>T | NP_001138767.1:n.1612-531C>T |