Linked Data
ClinVar Variation Id:
1424843
ClinVar RCV Id:
RCV001924077
dbSNP Id:
rs991789621
gnomAD v3:
4-25125727-G-T
gnomAD v4:
4-25125727-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25125727G>T , CM000666.2:g.25125727G>T | GRCh38 |
| NC_000004.11:g.25127349G>T , CM000666.1:g.25127349G>T | GRCh37 |
| NC_000004.10:g.24736447G>T | NCBI36 |
| NG_028222.1:g.39856C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1178C>A MANE Select | ENSP00000371535.2:p.Ser393Ter | |
| ENST00000680581.1:c.*52C>A | ENSP00000506483.1:n.*52C>A | |
| ENST00000680824.1:n.2394C>A | ||
| ENST00000681071.1:n.1470C>A | ||
| ENST00000681341.1:n.2225C>A | ||
| ENST00000681374.1:n.534C>A | ||
| ENST00000681948.1:c.1433C>A | ENSP00000505991.1:p.Ser478Ter | |
| ENST00000358971.7:c.*976C>A | ENSP00000351857.3:n.*976C>A | |
| ENST00000382103.6:c.1178C>A | ENSP00000371535.2:p.Ser393Ter | |
| ENST00000503150.1:c.366C>A | ||
| ENST00000514585.5:c.*879C>A | ENSP00000421880.1:n.*879C>A | |
| ENST00000515272.1:n.103C>A | ||
| NM_016955.3:c.1178C>A | NP_058651.3:p.Ser393Ter | |
| XM_005248168.2:c.941C>A | XP_005248225.1:p.Ser314Ter | |
| XM_006713965.2:c.998C>A | XP_006714028.1:p.Ser333Ter | |
| XM_011513846.1:c.1175C>A | XP_011512148.1:p.Ser392Ter | |
| XM_011513847.1:c.1145C>A | XP_011512149.1:p.Ser382Ter | |
| XM_011513848.1:c.998C>A | XP_011512150.1:p.Ser333Ter | |
| XM_011513846.2:c.1175C>A | XP_011512148.1:p.Ser392Ter | |
| XM_011513847.2:c.1145C>A | XP_011512149.1:p.Ser382Ter | |
| XM_017008277.1:c.1433C>A | XP_016863766.1:p.Ser478Ter | |
| XM_017008278.1:c.755C>A | XP_016863767.1:p.Ser252Ter | |
| NM_016955.4:c.1178C>A MANE Select | NP_058651.3:p.Ser393Ter |